A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
Enzymes that catalyze the joining of two molecules by the formation of a carbon-nitrogen bond. EC 6.3.
A carboxy-lyase that catalyzes the decarboxylation of (S)-2-Methyl-3-oxopropanoyl-CoA to propanoyl-CoA. In microorganisms the reaction can be coupled to the vectorial transport of SODIUM ions across the cytoplasmic membrane.
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Enzymes that catalyze the joining of two molecules by the formation of a carbon-carbon bond. These are the carboxylating enzymes and are mostly biotinyl-proteins. EC 6.4.
A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.
An enzyme which catalyzes the release of BIOTIN from biocytin. In human, defects in the enzyme are the cause of the organic acidemia MULTIPLE CARBOXYLASE DEFICIENCY or BIOTINIDASE DEFICIENCY.
A class of enzymes that catalyze the formation of a bond between two substrate molecules, coupled with the hydrolysis of a pyrophosphate bond in ATP or a similar energy donor. (Dorland, 28th ed) EC 6.
A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.
Derivatives of BUTYRIC ACID that include a double bond between carbon 2 and 3 of the aliphatic structure. Included under this heading are a broad variety of acid forms, salts, esters, and amides that include the aminobutryrate structure.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
A carboxylating enzyme that catalyzes the conversion of ATP, acetyl-CoA, and HCO3- to ADP, orthophosphate, and malonyl-CoA. It is a biotinyl-protein that also catalyzes transcarboxylation. The plant enzyme also carboxylates propanoyl-CoA and butanoyl-CoA (From Enzyme Nomenclature, 1992) EC 6.4.1.2.
Enzymes that catalyze the addition of a carboxyl group to a compound (carboxylases) or the removal of a carboxyl group from a compound (decarboxylases). EC 4.1.1.
A carboxy-lyase that plays a key role in photosynthetic carbon assimilation in the CALVIN-BENSON CYCLE by catalyzing the formation of 3-phosphoglycerate from ribulose 1,5-biphosphate and CARBON DIOXIDE. It can also utilize OXYGEN as a substrate to catalyze the synthesis of 2-phosphoglycolate and 3-phosphoglycerate in a process referred to as photorespiration.
An enzyme with high affinity for carbon dioxide. It catalyzes irreversibly the formation of oxaloacetate from phosphoenolpyruvate and carbon dioxide. This fixation of carbon dioxide in several bacteria and some plants is the first step in the biosynthesis of glucose. EC 4.1.1.31.
Derivatives of propionic acid. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxyethane structure.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

Bioavailability of biotin given orally to humans in pharmacologic doses. (1/8)

BACKGROUND: Patients with carboxylase deficiency are treated with pharmacologic doses of biotin. OBJECTIVE: We sought to determine the bioavailability of biotin at pharmacologic doses. DESIGN: Biotin was administered orally (2.1, 8.2, or 81.9 micromol) or intravenously (18.4 micromol) to 6 healthy adults in a crossover design with > or =2 wk between each biotin administration. Before and after each administration, timed 24-h urine samples were collected. Urinary biotin and biotin metabolites were analyzed by an HPLC avidin-binding assay. RESULTS: Urinary recoveries of biotin plus metabolites were similar (approximately 50%) after the 2 largest oral doses and the 1 intravenous dose, suggesting 100% bioavailability of the 2 largest oral doses. For unexplained reasons, the apparent recovery of the smallest oral dose was about twice that of the other doses. For all 4 doses, biotin accounted for >50% of the total of biotin and biotin metabolites in urine. Bisnorbiotin (13-23%), biotin-d,l-sulfoxide (5-13%), bisnorbiotin methyl ketone (3-9%), and biotin sulfone (1-3%) accounted for the remainder. The percentage excretion of biotin was greater when biotin was administered intravenously and for the largest oral dose than for the 2 smallest oral doses. CONCLUSION: Our data provide evidence that oral biotin is completely absorbed even when pharmacologic doses are administered. Biotin metabolites account for a substantial portion of total urinary excretion and must be considered in bioavailability studies. We speculate that renal losses of biotin (as a percentage of the dose administered) are moderately elevated when pharmacologic doses of biotin are administered.  (+info)

Effectiveness of nystatin in polysymptomatic patients. A randomized, double-blind trial with nystatin versus placebo in general practice. (2/8)

BACKGROUND: Antifungal therapy has been claimed to be effective in polysymptomatic patients with diffuse symptoms from multiple body systems and even well defined diseases, traditionally not related to fungi. Hypersensitivity to fungus proteins and mycotoxins has been proposed as the cause. METHODS: We conducted a 4-week randomized, double-blind, placebo-controlled study in 116 individuals selected by a 7-item questionnaire to determine whether the antifungal agent nystatin given orally was superior to placebo. At the onset of the study, the patients were free to select either their regular diet or a sugar- and yeast-free diet, which resulted in four different subgroups: nystatin + diet (ND); placebo + diet (PD); nystatin (N); and placebo (P). RESULTS: Nystatin was significantly better than placebo in reduction of the overall symptom score (P < 0.003). In six of the 45 individually recorded symptoms, the improvement was significant (P < 0.01). All three active treatment groups reduced their overall symptom scores significantly (P < 0.0001), while the placebo regimen had no effect (P = 0.83). The benefit of diet was significant within both the nystatin (ND > N) and the placebo groups (PD > P). CONCLUSIONS: Nystatin is superior to placebo in reducing localized and systemic symptoms in individuals with presumed fungus hypersensitivity as selected by a 7-item questionnaire. This superiority is probably enhanced even further by a sugar- and yeast-free diet.  (+info)

Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. (3/8)

The attachment of biotin to apocarboxylases is catalyzed by holocarboxylase synthetase (HCS). An inherited deficiency of HCS results in the disorder 'multiple carboxylase deficiency', which is characterized by reduced activity of all biotin-dependent carboxylases. Here we show that the majority of HCS localizes to the nucleus rather than the cytoplasm based on immunofluorescence studies with antibodies to peptides and full length HCS and on the expression of recombinant HCS. Subnuclear fractionations indicate that HCS is associated with chromatin and the nuclear lamina, the latter in a discontinuous distribution in high salt-extracted nuclear membranes. During mitosis, HCS resolves into ring-like particles which co-localize with lamin B. Nuclear HCS retains its biotinylating activity and was shown to biotinylate purified histones in vitro. Significantly, fibroblasts from patients with HCS deficiency are severely deficient in histone biotinylation in addition to the deficiency of carboxylase activities. We propose that the role of HCS in histone modification may be linked to the participation of biotin in the regulation of gene expression or cell division and that affected patients may have additional disease beyond that due to the effect on carboxylases.  (+info)

Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. (4/8)

Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency.  (+info)

Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. (5/8)

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). Although HCS also participates in the regulation of its own mRNA levels, the relevance of this mechanism to normal metabolism or to the MCD phenotype is not known. In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain. We propose that this mechanism of regulation is aimed at sparing the essential function of biotin in the brain at the expense of organs such as liver and kidney during biotin deprivation. In MCD, it is possible that some of the manifestations of the disease may be associated with down-regulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs.  (+info)

Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids. (6/8)

The effects of biotin deficiency and supplementation upon saturated fatty acids in serum, liver, cerebrum, and cerebellum of rats were investigated. Serum total fatty acids were reduced in deficient animals to 29% of normal. The percentage composition of some odd-chain fatty acids was increased in the serum and liver of deficient rats. The relative composition of most saturated fatty acids with carbon-chain lengths greater than or equal to 22 were increased in serum and liver of deficient rats. In contrast, there were no differences in the brain saturated fatty acids of deficient animals compared to those of normal and supplemented animals. These results may indicate that alterations in saturated fatty acids do not play a major role in the neurologic abnormalities in human biotin or inherited multiple-carboxylase deficiencies.  (+info)

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. (7/8)

Holocarboxylase synthetase (HCS) catalyses the biotinylation of the four biotin-dependent carboxylases found in humans. A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency (MCD). We have identified six different point mutations in the HCS gene in nine patients with MCD. Two of the mutations are frequent among the MCD patients analyzed. Four of the mutations cluster in the putative biotin-binding domain as deduced from the corresponding Escherichia coli enzyme and consistent with an explanation for biotin-responsiveness based on altered affinity for biotin. The two others may define an additional domain involved in biotin-binding or biotin-mediated stabilization of the protein.  (+info)

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. (8/8)

Biotinidase recycles the vitamin biotin from biocytin upon the degradation of the biotin-dependent carboxylases. We have identified a novel point mutation within the biotinidase gene that encodes the signal peptide in two unrelated individuals with profound biotinidase deficiency. Sequence analysis of genomic DNA from these individuals revealed a G to A transition (G100-->A) located 57 bases downstream of the authentic splice acceptor site in exon B. Although this mutation predicts a G34S substitution, it also generates a 3' splice acceptor site. Sequence of the PCR-amplified cDNA from the homozygous child revealed that all the product was shorter than that of normal individuals and was the result of aberrant splicing. The aberrantly spliced transcript lacked 57 bases, including a second in-frame ATG, that encode most of the putative signal peptide and results in an in-frame deletion of 19 amino acids. The mutation results in failure to secrete the aberrant protein into the blood. This is the first reported example in which a point mutation creates a cryptic 3' splice acceptor site motif that is used preferentially over the upstream authentic splice site. The preferential usage of the downstream splice site is not consistent with the 5'-3' scanning model, but is consistent with the exon definition model of RNA splicing.  (+info)

Multiple carboxylase deficiency (MCD) is a rare genetic disorder that affects the body's ability to metabolize certain amino acids, particularly those that contain sulfur. It is caused by mutations in the genes responsible for producing enzymes involved in the biotin-dependent carboxylation reactions, which are critical for various metabolic processes in the body.

There are two major types of MCD:

1. Profound multiple carboxylase deficiency (also known as Type II biotinidase deficiency): This form is more severe and is caused by a defect in the holocarboxylase synthetase enzyme, which is responsible for attaching biotin to several carboxylases.
2. Biotin-responsive multiple carboxylase deficiency (also known as Type I biotinidase deficiency): This form is milder and is caused by a defect in the biotinidase enzyme, which recycles biotin in the body. However, it can be treated with biotin supplementation.

Symptoms of MCD may include:

* Developmental delay
* Seizures
* Hypotonia (low muscle tone)
* Ataxia (lack of coordination)
* Rash
* Hair loss
* Acidosis (high levels of acid in the body)
* Coma and even death, if left untreated

Early diagnosis and treatment with biotin supplementation can significantly improve outcomes for individuals with MCD.

Pyruvate carboxylase deficiency disease is a rare inherited metabolic disorder that affects the body's ability to break down proteins, fats, and carbohydrates for energy. It is caused by mutations in the Pyruvate Carboxylase (PC) gene, which provides instructions for making an enzyme called pyruvate carboxylase. This enzyme plays a critical role in gluconeogenesis, a process that takes place in the liver and kidneys to produce glucose, a simple sugar that is a primary source of energy for the body.

In pyruvate carboxylase deficiency disease, the enzyme's activity is significantly reduced or absent, leading to an accumulation of toxic levels of certain metabolic intermediates, such as lactic acid and pyruvic acid, in the blood and other tissues. This accumulation can cause a range of symptoms, including developmental delay, seizures, poor muscle tone, difficulty breathing, and feeding problems.

The severity of pyruvate carboxylase deficiency disease varies widely, depending on the degree of enzyme activity that is affected. Some individuals may have mild symptoms, while others may experience severe, life-threatening complications. Treatment typically involves managing symptoms and providing supportive care to help prevent complications. In some cases, a low-protein diet or supplementation with certain vitamins and minerals may be recommended to help reduce the accumulation of toxic metabolites.

Holocarboxylase Synthetase Deficiency (HCD) is a rare genetic disorder of biotin metabolism, characterized by the body's inability to properly utilize the vitamin biotin. Biotin plays a crucial role in various essential functions, such as the breakdown of fats, proteins, and carbohydrates, as well as the regulation of gene expression.

Holocarboxylase synthetase is an enzyme responsible for attaching biotin to four different carboxylases, which are necessary for these vital processes. In Holocarboxylase Synthetase Deficiency, this enzyme is either partially or completely nonfunctional due to mutations in the HLCS gene.

The symptoms of HCD can vary widely but often include:

1. Feeding difficulties and poor growth in infancy
2. Severe metabolic acidosis
3. Ketoacidosis
4. Delayed development
5. Hypotonia (low muscle tone)
6. Skin rashes
7. Hair loss
8. Neurological symptoms, such as seizures and ataxia (loss of coordination and balance)

If left untreated, Holocarboxylase Synthetase Deficiency can lead to severe complications, including developmental delays, neurological damage, and even death. However, with early diagnosis and proper treatment involving biotin supplementation, many of these symptoms can be managed, and the progression of the disorder can be slowed or stopped.

Carbon-Nitrogen (C-N) ligases are a class of enzymes that catalyze the joining of a carbon atom from a donor molecule to a nitrogen atom in an acceptor molecule through a process called ligase reaction. This type of enzyme plays a crucial role in various biological processes, including the biosynthesis of amino acids, nucleotides, and other biomolecules that contain both carbon and nitrogen atoms.

C-N ligases typically require ATP or another energy source to drive the reaction forward, as well as cofactors such as metal ions or vitamins to facilitate the chemical bond formation between the carbon and nitrogen atoms. The specificity of C-N ligases varies depending on the enzyme, with some acting only on specific donor and acceptor molecules while others have broader substrate ranges.

Examples of C-N ligases include glutamine synthetase, which catalyzes the formation of glutamine from glutamate and ammonia, and asparagine synthetase, which catalyzes the formation of asparagine from aspartate and ammonia. Understanding the function and regulation of C-N ligases is important for understanding various biological processes and developing strategies to modulate them in disease states.

Methylmalonyl-CoA decarboxylase is a mitochondrial enzyme that plays a crucial role in the metabolism of certain amino acids and fatty acids. Specifically, it catalyzes the conversion of methylmalonyl-CoA to propionyl-CoA through the decarboxylation of the thioester bond.

The reaction is as follows:

Methylmalonyl-CoA → Propionyl-CoA + CO2

This enzyme requires biotin as a cofactor, and its activity is reduced in individuals with methylmalonic acidemia, a rare inherited metabolic disorder caused by mutations in the MMAB or MCEE genes that encode subunits of the methylmalonyl-CoA decarboxylase enzyme complex.

Deficiency of this enzyme leads to an accumulation of methylmalonic acid and methylmalonyl-CoA, which can cause metabolic acidosis, hyperammonemia, and other symptoms associated with the disorder.

Biotinidase deficiency is a genetic disorder that affects the body's ability to recycle and reuse biotin, a type of B vitamin. Biotinidase is an enzyme that helps release biotin from proteins in the food we eat and recycle it for use by the body.

In people with biotinidase deficiency, the biotinidase enzyme is either partially or completely missing, leading to a decrease in available biotin. This can result in a variety of symptoms, including seizures, developmental delays, hearing and vision loss, skin rashes, hair loss, and muscle weakness.

There are two main types of biotinidase deficiency: partial deficiency and profound deficiency. Partial deficiency means that some biotinidase activity is present, but not enough to prevent symptoms. Profound deficiency means that there is little or no biotinidase activity, resulting in more severe symptoms.

Biotinidase deficiency can be diagnosed through a blood test that measures the level of biotinidase enzyme activity. Treatment typically involves taking biotin supplements to replace the missing biotin and prevent symptoms from developing or worsening. With early diagnosis and treatment, people with biotinidase deficiency can often lead normal lives.

Carbon-carbon ligases are a type of enzyme that catalyze the formation of carbon-carbon bonds between two molecules. These enzymes play important roles in various biological processes, including the biosynthesis of natural products and the metabolism of carbohydrates and lipids.

Carbon-carbon ligases can be classified into several categories based on the type of reaction they catalyze. For example, aldolases catalyze the condensation of an aldehyde or ketone with another molecule to form a new carbon-carbon bond and a new carbonyl group. Other examples include the polyketide synthases (PKSs) and nonribosomal peptide synthetases (NRPSs), which are large multienzyme complexes that catalyze the sequential addition of activated carbon units to form complex natural products.

Carbon-carbon ligases are important targets for drug discovery and development, as they play critical roles in the biosynthesis of many disease-relevant molecules. Inhibitors of these enzymes have shown promise as potential therapeutic agents for a variety of diseases, including cancer, infectious diseases, and metabolic disorders.

Biotin is a water-soluble vitamin, also known as Vitamin B7 or Vitamin H. It is a cofactor for several enzymes involved in metabolism, particularly in the synthesis and breakdown of fatty acids, amino acids, and carbohydrates. Biotin plays a crucial role in maintaining healthy skin, hair, nails, nerves, and liver function. It is found in various foods such as nuts, seeds, whole grains, milk, and vegetables. Biotin deficiency is rare but can occur in people with malnutrition, alcoholism, pregnancy, or certain genetic disorders.

Biotinidase is an enzyme that is responsible for the release of biotin, a vital nutrient, from proteins in the body. Biotin is essential for various metabolic processes, including the synthesis of fatty acids and glucose. Biotinidase deficiency can lead to serious health problems, such as seizures, developmental delays, and hearing and vision loss. Therefore, biotinidase levels are often measured in newborn screening tests to identify babies who may be at risk for this rare but treatable condition.

Ligases are a group of enzymes that catalyze the formation of a covalent bond between two molecules, usually involving the joining of two nucleotides in a DNA or RNA strand. They play a crucial role in various biological processes such as DNA replication, repair, and recombination. In DNA ligases, the enzyme seals nicks or breaks in the phosphodiester backbone of the DNA molecule by catalyzing the formation of an ester bond between the 3'-hydroxyl group and the 5'-phosphate group of adjacent nucleotides. This process is essential for maintaining genomic integrity and stability.

Pyruvate carboxylase is a biotin-containing enzyme that plays a crucial role in gluconeogenesis, the process of generating new glucose molecules from non-carbohydrate sources. The enzyme catalyzes the conversion of pyruvate to oxaloacetate, an important intermediate in several metabolic pathways, particularly in the liver, kidneys, and brain.

The reaction catalyzed by pyruvate carboxylase is as follows:

Pyruvate + CO2 + ATP + H2O → Oxaloacetate + ADP + Pi + 2H+

In this reaction, pyruvate reacts with bicarbonate (HCO3-) to form oxaloacetate, consuming one molecule of ATP in the process. The generation of oxaloacetate provides a key entry point for non-carbohydrate precursors, such as lactate and certain amino acids, to enter the gluconeogenic pathway.

Pyruvate carboxylase deficiency is a rare but severe genetic disorder that can lead to neurological impairment and developmental delays due to the disruption of energy metabolism in the brain.

Crotonates are a group of organic compounds that contain a carboxylic acid functional group (-COOH) attached to a crotyl group, which is a type of alkyl group with the structure -CH=CH-CH\_{2}-. Crotyl groups are derived from crotonic acid or its derivatives.

Crotonates can be found in various natural and synthetic compounds, including some pharmaceuticals, agrochemicals, and other industrial chemicals. They can exist as salts, esters, or other derivatives of crotonic acid.

In medical contexts, crotonates may refer to certain medications or chemical compounds used for research purposes. For example, sodium crotylate is a salt of crotonic acid that has been studied for its potential anti-inflammatory and analgesic effects. However, it is not widely used in clinical practice.

It's worth noting that the term "crotonates" may not have a specific medical definition on its own, as it refers to a broad class of compounds with varying properties and uses.

Inborn errors of amino acid metabolism refer to genetic disorders that affect the body's ability to properly break down and process individual amino acids, which are the building blocks of proteins. These disorders can result in an accumulation of toxic levels of certain amino acids or their byproducts in the body, leading to a variety of symptoms and health complications.

There are many different types of inborn errors of amino acid metabolism, each affecting a specific amino acid or group of amino acids. Some examples include:

* Phenylketonuria (PKU): This disorder affects the breakdown of the amino acid phenylalanine, leading to its accumulation in the body and causing brain damage if left untreated.
* Maple syrup urine disease: This disorder affects the breakdown of the branched-chain amino acids leucine, isoleucine, and valine, leading to their accumulation in the body and causing neurological problems.
* Homocystinuria: This disorder affects the breakdown of the amino acid methionine, leading to its accumulation in the body and causing a range of symptoms including developmental delay, intellectual disability, and cardiovascular problems.

Treatment for inborn errors of amino acid metabolism typically involves dietary restrictions or supplementation to manage the levels of affected amino acids in the body. In some cases, medication or other therapies may also be necessary. Early diagnosis and treatment can help prevent or minimize the severity of symptoms and health complications associated with these disorders.

Acetyl-CoA carboxylase (ACCA) is a biotin-dependent enzyme that plays a crucial role in fatty acid synthesis. It catalyzes the conversion of acetyl-CoA to malonyl-CoA, which is the first and rate-limiting step in the synthesis of long-chain fatty acids. The reaction catalyzed by ACCA is as follows:

acetyl-CoA + HCO3- + ATP + 2H+ --> malonyl-CoA + CoA + ADP + Pi + 2H2O

ACCA exists in two isoforms, a cytosolic form (ACC1) and a mitochondrial form (ACC2). ACC1 is primarily involved in fatty acid synthesis, while ACC2 is responsible for the regulation of fatty acid oxidation. The activity of ACCA is regulated by several factors, including phosphorylation/dephosphorylation, allosteric regulation, and transcriptional regulation. Dysregulation of ACCA has been implicated in various metabolic disorders, such as obesity, insulin resistance, and non-alcoholic fatty liver disease.

Carboxy-lyases are a class of enzymes that catalyze the removal of a carboxyl group from a substrate, often releasing carbon dioxide in the process. These enzymes play important roles in various metabolic pathways, such as the biosynthesis and degradation of amino acids, sugars, and other organic compounds.

Carboxy-lyases are classified under EC number 4.2 in the Enzyme Commission (EC) system. They can be further divided into several subclasses based on their specific mechanisms and substrates. For example, some carboxy-lyases require a cofactor such as biotin or thiamine pyrophosphate to facilitate the decarboxylation reaction, while others do not.

Examples of carboxy-lyases include:

1. Pyruvate decarboxylase: This enzyme catalyzes the conversion of pyruvate to acetaldehyde and carbon dioxide during fermentation in yeast and other organisms.
2. Ribulose-1,5-bisphosphate carboxylase/oxygenase (RuBisCO): This enzyme is essential for photosynthesis in plants and some bacteria, as it catalyzes the fixation of carbon dioxide into an organic molecule during the Calvin cycle.
3. Phosphoenolpyruvate carboxylase: Found in plants, algae, and some bacteria, this enzyme plays a role in anaplerotic reactions that replenish intermediates in the citric acid cycle. It catalyzes the conversion of phosphoenolpyruvate to oxaloacetate and inorganic phosphate.
4. Aspartate transcarbamylase: This enzyme is involved in the biosynthesis of pyrimidines, a class of nucleotides. It catalyzes the transfer of a carboxyl group from carbamoyl aspartate to carbamoyl phosphate, forming cytidine triphosphate (CTP) and fumarate.
5. Urocanase: Found in animals, this enzyme is involved in histidine catabolism. It catalyzes the conversion of urocanate to formiminoglutamate and ammonia.

Ribulose-1,5-bisphosphate carboxylase/oxygenase (RuBisCO) is a crucial enzyme in the Calvin cycle, which is a process that plants use to convert carbon dioxide into glucose during photosynthesis. RuBisCO catalyzes the reaction between ribulose-1,5-bisphosphate and carbon dioxide, resulting in the formation of two molecules of 3-phosphoglycerate, which can then be converted into glucose.

RuBisCO is considered to be the most abundant enzyme on Earth, making up as much as 50% of the soluble protein found in leaves. It is a large and complex enzyme, consisting of eight small subunits and eight large subunits that are arranged in a barrel-shaped structure. The active site of the enzyme, where the reaction between ribulose-1,5-bisphosphate and carbon dioxide takes place, is located at the interface between two large subunits.

RuBisCO also has a secondary function as an oxygenase, which can lead to the production of glycolate, a toxic compound for plants. This reaction occurs when the enzyme binds with oxygen instead of carbon dioxide and is more prevalent in environments with low carbon dioxide concentrations and high oxygen concentrations. The glycolate produced during this process needs to be recycled through a series of reactions known as photorespiration, which can result in significant energy loss for the plant.

Phosphoenolpyruvate carboxylase (PEP-carboxylase or PEPC) is a biotin-dependent enzyme that plays a crucial role in the carbon fixation process of photosynthesis, specifically in the C4 and CAM (Crassulacean Acid Metabolism) plant pathways. It is also found in some bacteria and archaea.

PEP-carboxylase catalyzes the irreversible reaction between phosphoenolpyruvate (PEP) and bicarbonate (HCO3-) to form oxaloacetate and inorganic phosphate (Pi). This reaction helps to initiate the carbon fixation process by incorporating atmospheric carbon dioxide into an organic molecule, which can then be used for various metabolic processes.

In C4 plants, PEP-carboxylase is primarily located in the mesophyll cells where it facilitates the initial fixation of CO2 onto PEP, forming oxaloacetate. This oxaloacetate is then reduced to malate, which is subsequently transported to bundle sheath cells for further metabolism and additional carbon fixation by another enzyme, ribulose-1,5-bisphosphate carboxylase/oxygenase (RuBisCO).

In CAM plants, PEP-carboxylase operates at night to fix CO2 into malate, which is stored in vacuoles. During the day, malate is decarboxylated, releasing CO2 for RuBisCO-mediated carbon fixation while conserving water through reduced stomatal opening.

PEP-carboxylase is also found in some non-photosynthetic bacteria and archaea, where it contributes to various metabolic pathways such as gluconeogenesis, anaplerotic reactions, and the glyoxylate cycle.

Propionates, in a medical context, most commonly refer to a group of medications that are used as topical creams or gels to treat fungal infections of the skin. Propionic acid and its salts, such as propionate, are the active ingredients in these medications. They work by inhibiting the growth of fungi, which causes the infection. Common examples of propionate-containing medications include creams used to treat athlete's foot, ringworm, and jock itch.

It is important to note that there are many different types of medications and compounds that contain the word "propionate" in their name, as it refers to a specific chemical structure. However, in a medical context, it most commonly refers to antifungal creams or gels.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

"Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28. "Definition: multiple carboxylase deficiency from ... Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can ... Forms include: Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset; If left untreated, the ...
Biotinidase deficiency Holocarboxylase synthetase deficiency Multiple carboxylase deficiency Durance TD (1991). "Residual Avid ... Genetic disorders such as multiple carboxylase deficiency (MCD) (which includes biotinidase deficiency and holocarboxylase ... propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and 2 forms of acetyl-CoA carboxylase.) ... Baumgartner, E. R.; Suormala, T. (1997). "Multiple carboxylase deficiency: inherited and acquired disorders of biotin ...
"Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency". HLCS Gene Sequencing. GeneDx. Archived from the ... Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency Krabbe disease Leigh's disease Lesch-Nyhan syndrome ... "3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)". Genetics Home Reference. Retrieved 28 November 2013. Xue Ming ... Phelan-McDermid syndrome 3-Methylcrotonyl-CoA carboxylase deficiency Achondroplasia ADNP syndrome Aicardi syndrome Autism ...
This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of ... Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin ... Symptoms are very similar to biotinidase deficiency and treatment - large doses of biotin - is also the same.[citation needed] ... The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the ...
Genetic conditions Biotinidase deficiency, multiple carboxylase deficiency, or nongenetic deficiencies of biotin Diabetes ... and stroke-like episodes Pyruvate dehydrogenase deficiency Pyruvate carboxylase deficiency Leigh syndrome Drugs Linezolid ... 6-bisphosphatase deficiency Glucose-6-phosphatase deficiency GRACILE syndrome Mitochondrial encephalomyopathy, lactic acidosis ... Fialuridine Other Thiamine deficiency (especially during TPN) Impaired delivery of oxygen to cells in the tissues (e.g., from ...
3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. ...
... including urea cycle disorder or multiple carboxylase deficiency), a diet with excessive levels of protein, deficiencies of ... Wernicke's encephalopathy: Arising from thiamine (B1) deficiency, usually in the setting of alcoholism. Hashimoto's ... but other encephalopathies are reversible and can have a number of causes including nutritional deficiencies and toxins. Brain ...
Individuals with these multiple carboxylase disorders have the same problem with leucine catabolism as those with 3- ... 3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited ... 3-Methylcrotonyl-CoA carboxylase deficiency at NLM Genetics Home Reference (Articles with short description, Short description ... In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or ...
... deficiency Biotin sulfoxide Biotinidase deficiency Biotinylation Multiple carboxylase deficiency NeutrAvidin Photobiotin ... Acetyl-CoA carboxylase alpha (ACC1) Acetyl-CoA carboxylase beta (ACC2) Pyruvate carboxylase (PC) Methylcrotonyl-CoA carboxylase ... disorders characterized by deficient activities of biotin-dependent carboxylases are termed multiple carboxylase deficiency. ... Rarer are carboxylase and biotin transporter deficiences. Neonatal screening for biotinidase deficiency started in the United ...
Zhang B, Ginsburg D (September 2004). "Familial multiple coagulation factor deficiencies: new biologic insight from rare ... In humans, the gamma-glutamyl carboxylase enzyme is most highly expressed in the liver. Gamma-glutamyl carboxylase oxidizes ... "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate ... Gamma-glutamyl carboxylase is an enzyme that in humans is encoded by the GGCX gene, located on chromosome 2 at 2p12. Gamma- ...
AB variant Homocystinuria 3-Methylcrotonyl-CoA carboxylase deficiency Myelodysplastic syndrome Netherton syndrome Nicotine ... Articles with short description, Short description matches Wikidata, Pages using multiple image with manual scaled images, ... dependency Parkinson's disease Primary carnitine deficiency Recessive multiple epiphyseal dysplasia Sandhoff disease Spinal ... The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers ...
Multiple p Multiple acyl-CoA deficiency Multiple carboxylase deficiency, biotin responsive Multiple carboxylase deficiency, ... Multiple v Multiple sclerosis ichthyosis factor VIII deficiency Multiple sclerosis Multiple subcutaneous angiolipomas Multiple ... late onset Multiple carboxylase deficiency, propionic acidemia Multiple chemical sensitivity Multiple congenital anomalies ... dysplasia Multiple myeloma Multiple organ failure Multiple pterygium syndrome lethal type Multiple pterygium syndrome Multiple ...
... gamma-glutamyl carboxylase (GGCX), Xp contiguous deletion syndromes, and multiple sulfatase deficiency are all genetic ... Mutations in this gene result in a deficiency of arylsulfatase E. Only 50-60% of cases have been shown to have mutations in ... CS1 maint: multiple names: authors list, Articles with short description, Short description matches Wikidata, All articles with ... The mutation that leads to a deficiency in arylsulfatase E. (ARSE) occurs in the coding region of the gene. Absence of ...
... multiple carboxylase deficiency MeSH C18.452.648.066.620.100 - biotinidase deficiency MeSH C18.452.648.066.620.380 - ... multiple carboxylase deficiency MeSH C18.452.648.202.720.100 - biotinidase deficiency MeSH C18.452.648.202.720.380 - ... pyruvate carboxylase deficiency disease MeSH C18.452.648.202.810.766 - pyruvate dehydrogenase complex deficiency disease MeSH ... pyruvate carboxylase deficiency disease MeSH C18.452.660.710 - pyruvate dehydrogenase complex deficiency disease MeSH C18.452. ...
... multiple carboxylase deficiency MeSH C16.320.565.066.620.100 - biotinidase deficiency MeSH C16.320.565.066.620.380 - ... multiple carboxylase deficiency MeSH C16.320.565.202.720.100 - biotinidase deficiency MeSH C16.320.565.202.720.380 - ... pyruvate carboxylase deficiency disease MeSH C16.320.565.202.810.766 - pyruvate dehydrogenase complex deficiency disease MeSH ... pyruvate carboxylase deficiency disease MeSH C16.320.565.150.750 - pyruvate dehydrogenase complex deficiency disease MeSH ...
Human propionyl-CoA carboxylase contains two subunits, each encoded by a separate gene: A deficiency is associated with ... When multiple copies of a polypeptide encoded by a gene form an aggregate, this protein structure is referred to as a multimer ... "Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in ... "Essential arginine residues in the active sites of propionyl CoA carboxylase and beta-methylcrotonyl CoA carboxylase". Enzyme. ...
1 in 75,000 Multiple-CoA carboxylase deficiency (MCD) < 1 in 100,000 Inborn errors of fatty acid metabolism Long-chain ... 1 in 100,000 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000 Methylmalonyl-CoA mutase deficiency (MUT) > 1 in ... Multiple acyl-CoA dehydrogenase deficiency (MADD) Miscellaneous multisystem diseases Galactokinase deficiency Galactose ... L-3-hydroxy acyl-CoA dehydrogenase deficiency Medium-chain ketoacyl-CoA thiolase deficiency Dienoyl-CoA reductase deficiency ...
Carey, Claudia J.; Morris, James G. (1977). "Biotin Deficiency in the Cat and the Effect on Hepatic Propionyl CoA Carboxylase ... cite book}}: ,work= ignored (help)CS1 maint: multiple names: authors list (link) Watson, Tim D. G. (1998-12-01). "Diet and Skin ... Deficiencies result in disorders of the skin and poor immune functioning. When zinc is supplemented in diets, skin scaliness ... A deficiency in dietary copper is also related to collagen abnormalities, hypopigmentation of the skin, and alopecia. Sources ...
... is also contraindicated in pyruvate carboxylase deficiency, porphyria, and other rare genetic disorders of fat ... This may develop in late pregnancy in ewes bearing multiple fetuses and is associated with the considerable metabolic demands ... Ketoacidosis is most commonly caused by a deficiency of insulin in type 1 diabetes or late stage type 2 diabetes but can also ... Ketoacidosis is most commonly the result of complete insulin deficiency in type 1 diabetes or late-stage type 2 diabetes. ...
Thiamine deficiency underlies the disorder beriberi. Oxidative metabolism entails the further catabolism of pyruvate. The ... The most prominent carboxylation reactions in biochemistry are catalyzed by biotin-dependent carboxylases and RuBisCO. ... Multiple copies of three different enzymes compose a supramolecular structure that coordinates a four-step process converting ... This large supramolecular assembly contains multiple copies of three different types of subunits. These subunits catalyze ...
The multiple pathways, either catabolism by propionyl-CoA carboxylase or methylcitrate synthase, also depend on the presence of ... Genetic deficiencies regarding the production and breakdown of propionyl-CoA also have great clinical and human significance. ... May 2013). "Multiple propionyl coenzyme A-supplying pathways for production of the bioplastic poly(3-hydroxybutyrate-co-3- ... It later can be broken down by propionyl-CoA carboxylase or through the methylcitrate cycle. In different organisms, however, ...
CHRND Multiple pterygium syndrome, lethal type; 253290; CHRNG Multiple sulfatase deficiency; 272200; SUMF1 Multiple synostoses ... CUL7 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2 ... SPTA1 Pyruvate carboxylase deficiency; 266150; PC Pyruvate dehydrogenase deficiency; 312170; PDHA1 Pyruvate dehydrogenase E2 ... SDHD CPT deficiency, hepatic, type IA; 255120; CPT1A CPT deficiency, hepatic, type II; 600649; CPT2 CPT II deficiency, lethal ...
... deficiency is mutated in a rare disorder, Ribose-5-phosphate isomerase deficiency. The disease has ... It is presumed that the active site is located where multiple β-sheet C termini come together in the enzymatic cleft. This ... The direct product of RuBP carboxylase reaction is glyceraldehyde-3-phosphate; these are subsequently used to make larger ... Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. In the non- ...
Moderately severe deficiencies describe blood concentrations between 1 and 20 IU/dL; severe deficiencies yield levels of ... 5) Multiple proteolytic cleavages of the polypeptide backbone to remove an 18 amino acid signal peptide, a 24 amino acid ... This modification event is performed by a vitamin K-dependent microsomal carboxylase. The full complement of Gla is required to ... first associated protein C deficiency with symptoms of venous thrombosis. Homozygous protein C deficiency and the consequent ...
Genetic deficiency of HGPRT causes Lesch-Nyhan syndrome.) When a defective gene causes gaps to appear in the metabolic ... come from multiple sources. The amino acid glycine contributes all its carbon (2) and nitrogen (1) atoms, with additional ... H2O The sixth is catalyzed by phosphoribosylaminoimidazole carboxylase. AIR + CO2 → CAIR + 2H+ The seventh is catalyzed by ...
... deficiency 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency ACAD9 deficiency ... Armenian Medical Network.{{cite web}}: CS1 maint: multiple names: authors list (link) (CS1 maint: multiple names: authors list ... deficiency Postgastrectomy syndrome Pramlintide Pregnancy Premature labour and/or delivery Propionyl-CoA carboxylase deficiency ... Glucagon deficiency Glucose 6 phosphate dehydrogenase deficiency Glutaric acidemia type 2 Glycogen debranching deficiency ...
... pyruvate carboxylase deficiency disease MeSH C10.228.140.163.100.750 - pyruvate dehydrogenase complex deficiency disease MeSH ... multiple sclerosis MeSH C10.114.375.500.200 - multiple sclerosis, chronic progressive MeSH C10.114.375.500.600 - multiple ... multiple sclerosis MeSH C10.314.350.500.200 - multiple sclerosis, chronic progressive MeSH C10.314.350.500.600 - multiple ... multiple system atrophy MeSH C10.228.140.079.612.600 - olivopontocerebellar atrophies MeSH C10.228.140.079.612.700 - shy-drager ...
Hope for new way to beat obesity (Chemical articles with multiple compound IDs, Multiple chemicals in an infobox that need ... Malonyl-CoA is formed by carboxylating acetyl-CoA using the enzyme acetyl-CoA carboxylase. One molecule of acetyl-CoA joins ... In contrast, in CMAMMA due to malonyl-CoA decarboxylase deficiency, malonyl-CoA decarboxylase is decreased, which converts ... indexing, Chemical articles with multiple CAS registry numbers, Articles without InChI source, Articles without EBI source, ...
Mammalian ACC1 and ACC2 are regulated transcriptionally by multiple promoters which mediate ACC abundance in response to the ... due to ACSF3 deficiency are thought to result from partial compensation of a mitochondrial isoform of ACC1 (mACC1) for ... Crystallographic structures of E. coli acetyl-CoA carboxylase Biotin carboxylase subunit of E. coli acetyl-CoA carboxylase ... Acetyl-CoA carboxylase (ACC) is a biotin-dependent enzyme (EC 6.4.1.2) that catalyzes the irreversible carboxylation of acetyl- ...
Acute deficiency (see hypomagnesemia) is rare, and is more common as a drug side-effect (such as chronic alcohol or diuretic ... Due to the strength of the inner sphere complexation between Mg2+ and any ligand, multiple simultaneous interactions with the ... 5-bisphosphate carboxylase. During the dark period, if these enzymes were active a wasteful cycling of products and substrates ... Deficiency of the nutrient causes disease of the affected organism. In single-cell organisms such as bacteria and yeast, low ...
"Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28. "Definition: multiple carboxylase deficiency from ... Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can ... Forms include: Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset; If left untreated, the ...
Multiple carboxylase deficiency. This disorder is caused by a deficiency of holocarboxylase synthetase or biotinidase, two ... Multiple large-scale national and international case series have analyzed the fetal risks of the two most common tests: ... It is preferred to CVS when CVS is not reliable, as is the case in higher-order multiple pregnancies, in twins with fused ... In multiple studies, maternal corticosteroid therapy, used to induce lung maturity and surfactant synthesis in the fetus, has ...
Packman S, Sweetman L, Baker H, Wall S. The neonatal form of biotin-responsive multiple carboxylase deficiency. The Journal of ... The neonatal form of biotin-responsive multiple carboxylase deficiency. / Packman, S.; Sweetman, L.; Baker, H. et al. In: The ... Packman, S, Sweetman, L, Baker, H & Wall, S 1981, The neonatal form of biotin-responsive multiple carboxylase deficiency, The ... Packman, S., Sweetman, L., Baker, H., & Wall, S. (1981). The neonatal form of biotin-responsive multiple carboxylase deficiency ...
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Explore symptoms, ... the condition is considered a form of multiple carboxylase deficiency.. Mutations in the BTD gene reduce or eliminate the ... Wolf B. Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have. Genet Med. 2012 ... Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is ...
MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY. The Lancet. 1979 Jul ... MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY. In: The Lancet. 1979 ... MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY. / Cowan, Morton J.; ... title = "MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY", ...
... deficiency was defined as a distinct genetic disorder several years after its initial clinical description, similar to the ... Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med. 1983 Jan 20. 308(3):161. [QxMD ... Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. Hum Mutat. 2008 Jun ... evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest. 1981 Dec. ...
... carboxylase (ie, propionic acidemia). These authors noted a series of severe ketoacidotic episodes in the child that were ... Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of ... initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition ... Propionyl CoA Carboxylase Deficiency)) and Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) What to Read ...
Multiple acyl-CoA dehydrogenase deficiency. Multiple carboxylase deficiency. Phenylketonuria. Pompe disease. Propionic acidemia ... 3-methylcrotonyl-CoA carboxylase deficiency. Argininemia. Argininosuccinic acidemia. Biotinidase deficiency. Carnitine ... Trifunctional protein deficiency. Tyrosinemia type 1. Very long chain acyl-CoA dehydrogenase deficiency. X-linked ... Long-chain L-3-OH acyl-CoA dehydrogenase deficiency. Maple syrup urine disease. Medium-chain acyl-CoA dehydrogenase deficiency ...
Biotinidase Deficiency [Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase ... A sleep latency of lower than 10 minutes on the multiple sleep latency take a look at obtained in the course of the time that ... is an established treatment for focal and tonic-clonic seizures but is seldom at present used carnitine deficiency. Moderate- ... Deficiency] erectile dysfunction causes weight [url=http://dtekerala.gov.in/buy/Kamagra-Oral-Jelly/]buy 100 mg kamagra oral ...
Multiple carboxylase deficiency *. This disorder is caused by a deficiency of holocarboxylase synthetase or biotinidase, two ... Multiple recently published large-scale national and international case series have analyzed the fetal risks of the two most ... In multiple studies, maternal corticosteroid therapy, used to induce lung maturity and surfactant synthesis in the fetus, has ... Early amniocentesis is preferred to CVS when CVS is not reliable, such as in higher-order multiples pregnancies, in twins with ...
Multiple carboxylase deficiency From NCATS Genetic and Rare Diseases Information Center File Formats Help:. How do I view ...
Multiple carboxylase deficiency 2 - 3ml HEP, or P. To reach lab within 24 hours. 2 working weeks. Plasma 4 - 12nmol/min/ml. ... Propionyl-CoA carboxylase. Propionic aciduria CC, AFC, CCV, CVS. Contact lab prior to dispatch to discuss test. Dependent on ... Pyruvate carboxylase. CC, AFC, CCV, CVS. Contact lab prior to dispatch to discuss test.. Dependent on culture time. Fibroblasts ... Methylcrotonyl-CoA carboxylase. CC, AFC, CCV. Contact lab prior to dispatch to discuss test. Dependent on culture time. 2.5 - ...
Multiple carboxylase deficiency; Right corneal deposits in metabolic disorders 2016 2017 2018 Non-Billable/Non-Specific Code ...
Multiple carboxylase deficiency (MCD); 39. Non-ketotic hyperglycinemia (NKHG); 40. Pompe Disease; 41. Proprionic academia (PA ... 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBDH); 3. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC); 4. 3- ... Carnitine palmitoyl transferase deficiency type I (CPT-I); 11. Carnitine palmitoyl transferase deficiency type II (CPT-II); 12 ... Trifunctional protein deficiency (TFP); 49. Tyrosinemia type I (TYR-I); 50. Tyrosinemia type II (TYRII); 51. Tyrosinemia type ...
Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of ... Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and ... young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ... BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency. SNOMED CT: Multiple carboxylase deficiency - late ...
Biotin deficiency leads to multiple carboxylase deficiencies. The estimated incidence of this disorder is 1/60,000 with ... Symptoms of untreated biotinidase deficiency may appear at any time from 1 week to 10 years of age. The most common early ... Biotinidase deficiency is an autosomal recessive metabolic disorder of biotin recycling. ...
late-onset multiple carboxylase deficiency, see biotinidase deficiency. *Late-onset spondyloepiphyseal dysplasia, see X-linked ... late-onset biotin-responsive multiple carboxylase deficiency, see biotinidase deficiency. *late-onset lymphedema, see Meige ... lactate dehydrogenase subunit deficiencies, see lactate dehydrogenase deficiency. *lactic acidosis due to LAD deficiency, see ... leukocyte adhesion deficiency type 1. *leukocyte adhesion molecule deficiency type 1, see leukocyte adhesion deficiency type 1 ...
... carboxylase (ie, propionic acidemia). These authors noted a series of severe ketoacidotic episodes in the child that were ... Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of ... initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition ... Propionyl CoA Carboxylase Deficiency)) and Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) What to Read ...
Treatment of genetically determined biotin-associated enzymopathies (multiple carboxylase deficiency).. Dermatovenereology. ... Treatment of diseases caused by biotin deficiency: diseases of the skin, nails, hair. ...
"Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency". 1. 1 ... "Trifunctional protein deficiency", "TFP deficiency", "Trifunctional protein deficiency, neonatal onset", "TFP deficiency, ... "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type ... "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, ...
multiple carboxylase deficiency DOID:857 * type II complement component 8 deficiency DOID:0060302 ...
MCD - Multiple Carboxylase Deficiency *IVA - Isovaleric Acidemia *2-MBCD - 2-Methylbutyryl-CoA Dehydrogenase Deficiency ... Certain other disorders of amino acid metabolism (not including Ornithine Transcarbamylase Deficiency (OTC) 1 1:20,000 ...
CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase ... deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. 3-Hydroxyisovaleric acid is ... 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl - ... Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, ...
Propionic acidemia can also be seen as part of multiple carboxylase deficiency, biotin deficiency, or biotinidase deficiency. ... Deficiency of propionyl CoA carboxylase, the enzyme responsible for metabolizing propionic acid to methylmalonate, causes ... If expression of a trait requires only one copy of a gene (one allele)... прочитати більше disorders caused by deficiency of ... Deficiency of this dehydrogenase results in isovaleric acidemia, also known as "sweaty feet" syndrome, because accumulated ...
Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene ... A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; 3-hydroxyisovaleric acid in plasma, ... Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B: Neurological deficits in mice with profound biotinidase deficiency are ... Hymes J, Stanley CM, Wolf B: Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81. doi: 10.1002/ ...
Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3- ... for the detection of MCT8 deficiency at birth. Our data verified the significantly reduced rT3 level in Patient 1, compared ... SUMMARY: Patients with MCT8 deficiency often undergo diagnostic odysseys. An early diagnosis could be missed by a normal ... BACKGROUND: Allan-Herndon-Dudley syndrome (MCT 8 deficiency) is an X-linked recessive condition caused by hemizygous pathogenic ...
Deficiency Fructose Diphosphatase. *Deficiency Multiple Carboxylase Late Onset. *Deficiens Agamous Like Proteins ...
Lactic acidosis is often caused by biotin or thiamine deficiency. The role of B-vitamins is still underrated by most people ... The scientific paper from 1981 describes the multiple carboxylase deficiency which presented in early childhood as alopecia, ... affecting the blood pH levels is biotinidase deficiency which belongs to the group of multiple carboxylase deficiency disorders ... Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. Eur J Pediatr. 1981 Oct;137(2):203 ...
Methylmalonic aciduria (mutase deficiency), multiple carboxylase deficiency, and 3-hydroxy-3-methylglutaric aciduria revealed ... In MCAD and MAD (neonatal form) deficiencies, typical excretion patterns of urinary acylglycines were found in all the samples ...
  • After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. (elsevierpure.com)
  • Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
  • Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (medscape.com)
  • Deficient biotinidase activity in late-onset multiple carboxylase deficiency. (medscape.com)
  • Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. (loinc.org)
  • In acute deficiency, pyruvate accumulates and is metabolized to lactate, and chronic deficiency may cause polyneuropathy and Wernicke encephalopathy. (psoriasisdietplan.com)
  • Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. (nih.gov)
  • Magnesium is required for three critical enzymatic reactions in glucose metabolism: pyruvate carboxylase, phosphoenol-pyruvate carboxykinase and fructose 1,6 biphosphatase. (metabolichealing.com)
  • disorders caused by deficiency of one or more subunits of a dehydrogenase active in the 2nd step of branched-chain amino acid catabolism. (msdmanuals.com)
  • One of the genetic variations affecting the blood pH levels is biotinidase deficiency which belongs to the group of multiple carboxylase deficiency disorders. (psoriasisdietplan.com)
  • In 2015 new evidence was assessed and it was agreed by clinical experts and the NSU that a group of rare disorders (carboxylase deficiencies) should no longer be screened for. (nsu.govt.nz)
  • High-dose supplementation (doses greater than 1 mg/d) plays a role in therapy for several diseases, including biotinidase deficiency, mitochondrial metabolic disorders, and multiple sclerosis. (aacc.org)
  • Individuals who have strict diets or have eating disorders, such as anorexia or bulimia, may suffer from secondary vitamin K deficiency. (naturalremedies.org)
  • 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn of GABA metabolism. (forextrading-madeeasy.com)
  • The deficiency can be in biotinidase or holocarboxylase synthetase. (wikipedia.org)
  • thus, the infant with holocarboxylase synthetase (HCS) deficiency in utero grows uneventfully. (medscape.com)
  • The major clinical findings of holocarboxylase synthetase deficiency include severe ketoacidosis, exfoliative dermatitis, and hypoglycemia . (medscape.com)
  • Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. (medscape.com)
  • Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (medscape.com)
  • Holocarboxylase synthetase deficiency pre and post newborn screening. (medscape.com)
  • A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. (medscape.com)
  • Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. (medscape.com)
  • Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. (medscape.com)
  • Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. (beds.ac.uk)
  • Biotinidase deficiency is an autosomal recessive metabolic disorder of biotin recycling. (nwlpathology.nhs.uk)
  • Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. (medscape.com)
  • Subsequent work led to further delineation of another disorder, initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition to defects in other carboxylases. (medscape.com)
  • Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. (beds.ac.uk)
  • The scientific paper from 1981 describes the multiple carboxylase deficiency which presented in early childhood as alopecia, skin rashes, dermatitis, hypotonia (muscle weakness), ataxia and motor retardation, frequent episodes of ketoacidosis with hyperlactatemia . (psoriasisdietplan.com)
  • MCAD deficiency, it is important that urine is collected at the time of hypoglycaemic stress. (mangen.co.uk)
  • Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. (wikipedia.org)
  • In 1961, Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of propionyl coenzyme A (CoA) carboxylase (ie, propionic acidemia). (medscape.com)
  • An enzyme is missing resulting in a deficiency in biotin. (nsu.govt.nz)
  • Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. (medlineplus.gov)
  • Lactic acidosis is often caused by biotin or thiamine deficiency . (psoriasisdietplan.com)
  • Of course, B1 (thiamine) and B7 ( biotin ) deficiencies are not the only possible causes of lactic acidosis but they are well documented. (psoriasisdietplan.com)
  • Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. (medlineplus.gov)
  • Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. (medlineplus.gov)
  • Hart PS, Hymes J, Wolf B: Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. (smpdb.ca)
  • Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B: Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. (smpdb.ca)
  • Profound biotinidase deficiency occurs in approximately 1 in 137,000 live births and partial biotinidase deficiency occurs in approximately 1 in 110,000 live births, resulting in a combined incidence of about 1 in 61,000. (mayocliniclabs.com)
  • It is very rare to see someone deficient in Biotin although half of pregnant women may develop a very mild deficiency. (racerephedra.com)
  • It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism. (nature.com)
  • Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (medlineplus.gov)
  • Estimates on the incidence of GAMT deficiency vary widely, with recent numbers from the Utah and New York newborn screening programs estimating 1:405,655. (medicalhomeportal.org)
  • To confirm the diagnosis of GAMT deficiency, work with Newborn Screening Services ( see RI providers [2] ) . (medicalhomeportal.org)
  • Enzymatic testing for the diagnosis of biotinidase deficiency, usually in follow-up to an abnormal newborn screen. (mayocliniclabs.com)
  • A vitamin K deficiency in healthy adults is not common, however, there is an increased risk of a deficiency in newborn infants. (naturalremedies.org)
  • Individuals who suffer from cystic fibrosis, inflammatory bowel diseases or have had recent abdominal surgeries may be at a higher risk for deficiency. (naturalremedies.org)
  • Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which codes for biotinidase. (smpdb.ca)
  • Adults who take anticoagulant drugs or individuals who have liver damage or disease are at a higher risk of vitamin K deficiency. (naturalremedies.org)
  • Biotin, is an essential coenzyme involved in carbon dioxide transfer in carboxylase reactions. (aacc.org)
  • Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. (sdsu.edu)
  • A condition caused by high levels of ammonia , which is due to inborn errors of metabolism (including urea cycle disorder or multiple carboxylase deficiency ), a diet with excessive levels of protein , deficiencies of specific nutrients such as arginine or biotin , or organ failure. (wikipedia.org)
  • Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of creatine synthesis resulting in creatine deficiency and an accumulation of the toxic metabolite (GAA) guanidinoacetate in tissues and body fluids, including the brain. (medicalhomeportal.org)
  • Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. (medlineplus.gov)
  • Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. (medlineplus.gov)
  • Biotin is also important for the conversion of food (1) in our bodies into metabolic energy and the function of carboxylases enzymes that contain biotin. (racerephedra.com)
  • Severe combined immune deficiency (SCID). (nsu.govt.nz)
  • Treatment of diseases caused by biotin deficiency: diseases of the skin, nails, hair. (kusum.ua)
  • Mannosidase Deficiency Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • This graph shows the total number of publications written about "Mannosidase Deficiency Diseases" by people in this website by year, and whether "Mannosidase Deficiency Diseases" was a major or minor topic of these publications. (ouhsc.edu)
  • Below are the most recent publications written about "Mannosidase Deficiency Diseases" by people in Profiles. (ouhsc.edu)
  • Magnesium deficiency has been cited in numerous diseases, as either being a causative factor, or as expediting various diseases processes. (metabolichealing.com)
  • Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. (medlineplus.gov)
  • Patient consumed the alcohol regularly (which is a risk factor of thiamine deficiency) and shortly before the hospitalization lost about 5 kg. (psoriasisdietplan.com)
  • Critically ill patients are prone to thiamine deficiency because of preexistent malnutrition, increased consumption in high-carbohydrate nutrition, and accelerated clearance in renal replacement. (psoriasisdietplan.com)
  • Thiamine deficiency may become clinically evident in any type of malnutrition that outlasts thiamine body stores (2 to 3 weeks), including alcoholism, bariatric surgery, or hyperemesis gravidarum, and results in high morbidity and mortality if untreated. (psoriasisdietplan.com)
  • Arising from thiamine (B 1 ) deficiency , usually in the setting of alcoholism . (wikipedia.org)