Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
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.
Derivatives of propionic acid. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxyethane structure.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
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.
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.
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.
An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
Pentanoic acid, also known as valeric acid, is a carboxylic acid with a 5-carbon chain (C5H10O2), having a distinctive pungent and rancid odor, found in some animals' sweat, certain foods, and produced through wood fermentation.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA.
A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.
Malonates are organic compounds containing a malonate group, which is a dicarboxylic acid functional group with the structure -OC(CH2COOH)2, and can form salts or esters known as malonates.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. (1/16)

We describe the use of antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular defects identified in methylmalonic acidemia (MMA) and propionic acidemia (PA). The three new point mutations described in deep intronic regions increase the splicing scores of pseudoexons or generate consensus binding motifs for splicing factors, such as SRp40, which favor the intronic inclusions in MUT (r.1957ins76), PCCA (r.1284ins84), or PCCB (r.654ins72) messenger RNAs (mRNAs). Experimental confirmation that these changes are pathogenic and cause the activation of the pseudoexons was obtained by use of minigenes. AMOs were targeted to the 5? or 3? cryptic splice sites to block access of the splicing machinery to the pseudoexonic regions in the pre-mRNA. Using this antisense therapeutics, we have obtained correctly spliced mRNA that was effectively translated, and propionyl coenzyme A (CoA) carboxylase (PCC) or methylmalonylCoA mutase (MCM) activities were rescued in patients' fibroblasts. The effect of AMOs was sequence and dose dependent. In the affected patient with MUT mutation, close to 100% of MCM activity, measured by incorporation of (14)C-propionate, was obtained after 48 h, and correctly spliced MUT mRNA was still detected 15 d after treatment. In the PCCA-mutated and PCCB-mutated cell lines, 100% of PCC activity was measured after 72 h of AMO delivery, and the presence of biotinylated PCCA protein was detected by western blot in treated PCCA-deficient cells. Our results demonstrate that the aberrant inclusions of the intronic sequences are disease-causing mutations in these patients. These findings provide a new therapeutic strategy in these genetic disorders, potentially applicable to a large number of cases with deep intronic changes that, at the moment, remain undetected by standard mutation-detection techniques.  (+info)

Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy. (2/16)

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Unusual presentation of propionic acidaemia as isolated cardiomyopathy. (3/16)

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Short-chain fatty acid-mediated effects on erythropoiesis in primary definitive erythroid cells. (4/16)

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Outcome of organic acidurias in China. (5/16)

From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were analysed using tandem mass spectrometry. One hundred and sixty-eight patients (1.76%) with organic acidurias were detected. Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined with homocysteinemia. Sixteen (9.5%) of those patients detected with organic acidurias had propionic aciduria, and 15 (8.9%) had multiple carboxylase deficiency. Seven (4.2%) had glutaric aciduria type 1. After dietary treatment, medicine and rehabilitation, clinical improvements were observed in more than half of the patients. Twenty-eight of the 168 patients (16.7%) recovered and led a normal life. The method of urine organic acid analysis by gas chromatography - mass spectrometry and blood acylcarnitines analysis by tandem mass spectrometry have been established and applied successfully in China, namely Beijing, Shanghai, Wuhan and Guangzhou. The prognoses of Chinese patients with organic acidurias have also improved significantly.  (+info)

Prediction of seizure control in non-ketotic hyperglycemic induced seizures. (6/16)

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N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. (7/16)

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Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase. (8/16)

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Propionic Acidemia is a rare inherited metabolic disorder that affects the body's ability to break down certain proteins and fats. It is characterized by an accumulation of propionic acid and other toxic byproducts in the body due to a deficiency in the enzyme propionyl-CoA carboxylase, which is responsible for breaking down specific amino acids (propionate, isoleucine, methionine, threonine, and valine) found in proteins.

This condition can lead to a variety of symptoms, including vomiting, seizures, developmental delays, hypotonia (low muscle tone), and life-threatening complications such as metabolic acidosis, cardiac dysfunction, and neurological damage. Early diagnosis and management through dietary restrictions, supplementation, and emergency treatment plans are crucial to improve outcomes and prevent severe complications in affected individuals.

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.

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.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

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.

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.

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.

Methylmalonyl-CoA mutase is a mitochondrial enzyme that plays a crucial role in the metabolism of certain amino acids and fatty acids. Specifically, it catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, which is an important step in the catabolic pathways of valine, isoleucine, threonine, methionine, odd-chain fatty acids, and cholesterol.

The enzyme requires a cofactor called adenosylcobalamin (vitamin B12) for its activity. In the absence of this cofactor or due to mutations in the gene encoding the enzyme, methylmalonyl-CoA mutase deficiency can occur, leading to the accumulation of methylmalonic acid and other toxic metabolites, which can cause a range of symptoms including vomiting, dehydration, lethargy, hypotonia, developmental delay, and metabolic acidosis. This condition is typically inherited in an autosomal recessive manner and can be diagnosed through biochemical tests and genetic analysis.

Methylmalonic acid (MMA) is an organic compound that is produced in the human body during the metabolism of certain amino acids, including methionine and threonine. It is a type of fatty acid that is intermediate in the breakdown of these amino acids in the liver and other tissues.

Under normal circumstances, MMA is quickly converted to succinic acid, which is then used in the Krebs cycle to generate energy in the form of ATP. However, when there are deficiencies or mutations in enzymes involved in this metabolic pathway, such as methylmalonyl-CoA mutase, MMA can accumulate in the body and cause methylmalonic acidemia, a rare genetic disorder that affects approximately 1 in every 50,000 to 100,000 individuals worldwide.

Elevated levels of MMA in the blood or urine can be indicative of various metabolic disorders, including methylmalonic acidemia, vitamin B12 deficiency, and renal insufficiency. Therefore, measuring MMA levels is often used as a diagnostic tool to help identify and manage these conditions.

I am sorry for any confusion, but "Pentanoic Acids" is not a recognized medical term or concept. Pentanoic acid, also known as valeric acid, is an organic compound with the formula CH3CH2CH2CH2CO2H. It is a fatty acid with five carbon atoms, and it may have some uses in industry, but it does not have specific relevance to medical definition or healthcare.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Diabetic ketoacidosis (DKA) is a serious metabolic complication characterized by the triad of hyperglycemia, metabolic acidosis, and increased ketone bodies. It primarily occurs in individuals with diabetes mellitus type 1, but it can also be seen in some people with diabetes mellitus type 2, particularly during severe illness or surgery.

The condition arises when there is a significant lack of insulin in the body, which impairs the ability of cells to take up glucose for energy production. As a result, the body starts breaking down fatty acids to produce energy, leading to an increase in ketone bodies (acetoacetate, beta-hydroxybutyrate, and acetone) in the bloodstream. This process is called ketosis.

In DKA, the excessive production of ketone bodies results in metabolic acidosis, which is characterized by a lower than normal pH level in the blood (< 7.35) and an elevated serum bicarbonate level (< 18 mEq/L). The hyperglycemia in DKA is due to both increased glucose production and decreased glucose utilization by cells, which can lead to severe dehydration and electrolyte imbalances.

Symptoms of diabetic ketoacidosis include excessive thirst, frequent urination, nausea, vomiting, abdominal pain, fatigue, fruity breath odor, and altered mental status. If left untreated, DKA can progress to coma and even lead to death. Treatment typically involves administering insulin, fluid replacement, and electrolyte management in a hospital setting.

Hyperaldosteronism is a medical condition characterized by the overproduction of aldosterone, a hormone produced by the adrenal glands. Aldosterone helps regulate sodium and potassium balance and blood pressure by promoting sodium retention and potassium excretion in the kidneys.

There are two types of hyperaldosteronism: primary and secondary. Primary hyperaldosteronism is caused by an overproduction of aldosterone from an abnormality within the adrenal gland, such as a tumor (Conn's syndrome) or hyperplasia. Secondary hyperaldosteronism occurs when there is an excess production of renin, a hormone produced by the kidneys, which then stimulates the adrenal glands to produce more aldosterone. This can be caused by various conditions that affect kidney function, such as renal artery stenosis or heart failure.

Symptoms of hyperaldosteronism may include high blood pressure, low potassium levels (hypokalemia), muscle weakness, and frequent urination. Diagnosis typically involves measuring aldosterone and renin levels in the blood, as well as other tests to determine the underlying cause. Treatment depends on the type and cause of hyperaldosteronism but may include medications, surgery, or lifestyle changes.

"Malonates" is not a recognized medical term. However, in chemistry, malonates refer to salts or esters of malonic acid, a dicarboxylic acid with the formula CH2(COOH)2. Malonic acid and its derivatives have been used in the synthesis of various pharmaceuticals and chemicals, but they are not typically associated with any specific medical condition or treatment. If you have encountered the term "malonates" in a medical context, it may be helpful to provide more information or seek clarification from the source.

... at NLM Genetics Home Reference Propionic acidemia at NIH's Office of Rare Diseases "Propionic acidemia". ... scientists established that propionic acidemia was a recessive disorder, and that propionic acidemia and methylmalonic acidemia ... Propionic acidemia can vary in severity. Severe propionic acidemia lead to symptoms already seen in newborns. Symptoms include ... Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare ...
Shchelochkov OA, Carrillo N, Venditti C (1993). "Propionic Acidemia". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, ... In the neonatal developmental stages, propionic acidemia, which is a medical issue defined as the lack of propionyl-CoA ... Propionyl-CoA is a coenzyme A derivative of propionic acid. It is composed of a 24 total carbon chain (without the coenzyme, it ... In an experiment performed by Suld et al., when combining liver mitochondria and propionic acid with the addition of coenzyme A ...
Propionic acidemia may alter both neuronal and glial gene expression by affecting histone acetylation. When propionic acid is ... suggesting that chronic ingestion of propionic acid may have adverse metabolic consequences. In propionic acidemia, a rare ... Relevance for propionic acidemia". Journal of Neurochemistry. 101 (3): 806-814. doi:10.1111/j.1471-4159.2006.04397.x. PMID ... A propionic, or propanoic, compound is a carboxylate salt or ester of propionic acid. In these compounds, propionate is often ...
PFC Propionicacidemia; 606054; PCCA Propionicacidemia; 606054; PCCB Prostate cancer 1, 176807; 601518; RNASEL Prostate cancer; ... ACAD8 Isovaleric acidemia; 243500; IVD IVIC syndrome; 147750; SALL4 Jackson-Weiss syndrome; 123150; FGFR1 Jackson-Weiss ...
A possible explanation for hyperammonemia in propionic and methylmalonic acidemia". Journal of Clinical Investigation. 64 (6): ...
September 2014). "Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia". Orphanet ... This causes a buildup of propionic and/or methylmalonic acid, which has effects on infants ranging from severe brain damage to ... The latter is also formed from propionic acid, which bacteria produce in the intestine. Propionyl-CoA and bicarbonate are ...
Childs studied the genetics of adrenal hyperplasia, Crigler-Najjar syndrome, and propionic acidemia. He is known for his ...
Mutations in PCC, either in the α subunit (PCCα) or β subunit (PCCβ) can cause propionic acidemia in humans. When different ... Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M (2004). "Propionic acidemia: mutation update and ... 1999). "Overview of mutations in the PCCA and PCCB genes causing propionic acidemia". Human Mutation. 14 (4): 275-282. doi: ... Sloane V, Waldrop GL (April 2004). "Kinetic characterization of mutations found in propionic acidemia and ...
Maple syrup urine disease Methylmalonic acidemia Propionic acidemia Online Mendelian Inheritance in Man (OMIM): 243500 Lee, Yw ... "Isovaleric acidemia". Genetics Home Reference. 4 May 2015. Isovaleric acidemia at NLM Genetics Home Reference GeneReviews: The ... It is a classical type of organic acidemia. A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty ... Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the ...
The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup ... Treatment or management of organic acidemias vary; eg see methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and ... Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, ... Organic acidemias are usually diagnosed in infancy, characterized by urinary excretion of abnormal amounts or types of organic ...
... including propionic acidemia, methylmalonic acidemia and isovaleric acidemia.[citation needed] Cystic fibrosis (CF) was first ... One such disease is glutaric acidemia type I, a neurometabolic disease present in approximately 1 out of every 100,000 live ... Most jurisdictions did not start screening for any of the organic acidemias before tandem mass spectrometry significantly ... Newborn screening using tandem mass spectrometry can detect several organic acidemias, ...
Mutations in PCC, either in the α subunit (PCCα) or β subunit (PCCβ) can cause propionic acidemia in humans. When different ...
... methylmalonic acidemia, and propionic acidemia. He has studied the neuropathology of propionic acidemia, including the ... Currently, he conducts research into the causes of progressive neurologic disability caused by methylmalonic acidemia following ... he is investigating the use of dichloroacetate to treat a broad range of mitochondrial diseases that lead to lactic acidemia. ...
He was diagnosed with methylmalonic acidemia (MMA), a genetic condition in which the body produces propionic acid, a compound ... "Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia". The Journal of Pediatrics. ... When the method was used on blood from Ryan and David Jr., it was seen that propionic acid, which is produced in MMA, caused a ... Stallings gave birth to another child while incarcerated awaiting trial; he was diagnosed with methylmalonic acidemia (MMA), a ...
Isovaleric acidemia Maple syrup urine disease Propionic acidemia Online Mendelian Inheritance in Man (OMIM): 277100 Tada K, ...
Propionic acidemia, also known as "ketotic glycinemia" Glycine encephalopathy, also known as "non-ketotic hyperglycinemia" This ...
Methylmalonic acidemia Isovaleric acidemia Propionic acidemia Carnitine palmitoyltransferase II deficiency Transient ... Examples of the former are propionic acidemia and methylmalonic acidemia, and examples of the latter are acute liver failure ...
Combined malonic and methylmalonic aciduria (CMAMMA) Isovaleric acidemia Methylmalonic acidemia Propionic acidemia Podebrad F, ... It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine and ...
1 in 100,000 Propionic acidemia (PROP) > 1 in 75,000 Multiple-CoA carboxylase deficiency (MCD) < 1 in 100,000 Inborn errors of ... Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase ... 1 in 100,000 Inborn errors of organic acid metabolism Glutaric acidemia type I (GA I) > 1 in 75,000 Hydroxymethylglutaryl lyase ... deficiency (HMG) < 1 in 100,000 Isovaleric acidemia (IVA) < 1 in 100,000 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 ...
In patients with propionic acidemia, a rare autosomal recessive metabolic disorder, propionyl-CoA levels elevated and increased ...
Methylmalonic acidemia Propionic acidemia Lower levels of serum valine, like other branched-chain amino acids, are associated ...
Heterochromia Hirschsprung's disease Maturity onset diabetes of the young type 4 Nonsyndromic deafness Propionic acidemia ...
Methylmalonic acidemia Propionic acidemia Foods high in threonine include cottage cheese, poultry, fish, meat, lentils, black ...
... propionic acidemia Multiple chemical sensitivity Multiple congenital anomalies mental retardation, growth failure and cleft lip ... type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia ...
Propionic Acidemia, Methylmalonic Aciduria, Isovaleric Aciduria) Low dose arsenic poisoning Sako disease (Myelodysplastic- ...
... propionic acidemia or isolated methylmalonic acidemia. A primary B-cell tumor, such as an insulinoma, is associated with ... Some organic and amino acid acidemias, especially those involving the oxidation of fatty acids, can lead to the symptom of ...
He discovered new inherited disorders of organic acid metabolism (propionic and methylmalonic acidemia), and defined key ...
Isovaleric acidemia Propionic acidemia Maple syrup urine disease The names methylmalonic acidemia and methylmalonic aciduria, ... One of, if not the most common form of organic acidemia, methylmalonic acidemia is not apparent at birth as symptoms usually do ... "Acidemia, Methylmalonic". NORD (National Organization for Rare Disorders). Retrieved 2015-10-29. "Methylmalonic acidemia". ... In methylmalonic acidemia, the body is unable to break down the amino acids methionine, threonine, isoleucine and valine; as a ...
... methylmalonic acidemia, propionic acidemia, middle cerebral artery occlusion, hypertensive vasculopathy, acute Mycoplasma ... Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids ... Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of ... The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe ...
Okinawa type Night blindness Nonsyndromic deafness Ovarian cancer Porphyria Propionic acidemia Protein S deficiency Pseudo- ...
Propionic acidemia at NLM Genetics Home Reference Propionic acidemia at NIHs Office of Rare Diseases "Propionic acidemia". ... scientists established that propionic acidemia was a recessive disorder, and that propionic acidemia and methylmalonic acidemia ... Propionic acidemia can vary in severity. Severe propionic acidemia lead to symptoms already seen in newborns. Symptoms include ... Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare ...
... carboxylase results in the accumulation of propionic acid. Patients may present with vomiting, dehydration, lethargy, and ... Propionic acidemia is a metabolic disorder in which a defective form of the enzyme propionyl-coenzyme A (CoA) ... encoded search term (Propionic Acidemia) and Propionic Acidemia What to Read Next on Medscape ... Biotin responsiveness may depend on the genetic heterogeneity of isolated propionic acidemia versus propionic acidemia existing ...
Propionic Acidemia Key Companies. Propionic Acidemia Key Products. Propionic Acidemia- Unmet Needs. Propionic Acidemia- Market ... Propionic Acidemia- Future Perspectives and Conclusion. Propionic Acidemia Analyst Views. Propionic Acidemia Key Companies. ... Propionic Acidemia Understanding. Propionic Acidemia: Overview. Propionic acidemia is a rare metabolic disorder affecting from ... Propionic Acidemia Emerging Drugs Chapters. This segment of the Propionic Acidemia report encloses its detailed analysis of ...
... and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available ... Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a ... Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision J Inherit Metab ... Keywords: diagnosis and management; guidelines; inherited metabolic disease; methylmalonic acidaemia; propionic acidaemia. ...
... carboxylase results in the accumulation of propionic acid. Patients may present with vomiting, dehydration, lethargy, and ... Propionic acidemia is a metabolic disorder in which a defective form of the enzyme propionyl-coenzyme A (CoA) ... encoded search term (Propionic Acidemia) and Propionic Acidemia What to Read Next on Medscape ... Biotin responsiveness may depend on the genetic heterogeneity of isolated propionic acidemia versus propionic acidemia existing ...
Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research ... 2023 Propionic Acidemia Foundation. All rights reserved.. LOCATION AND CONTACT. PO Box 151. Deerfield, IL 60015-4421. [email ... 3 weeks of fun activities to raise money and awareness for Propionic Acidemia. School Chest Letter 2016 Over $170,000 was ...
Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research ... 2023 Propionic Acidemia Foundation. All rights reserved.. LOCATION AND CONTACT. PO Box 151. Deerfield, IL 60015-4421. [email ... Texas did not screen for propionic acidemia in 1999, and we found that out the hard way when you were five months old. Your ... Heavenly Father after fighting a lifelong battle with propionic acidemia. During her life. Kristin overcame many obstacles of ...
... carboxylase results in the accumulation of propionic acid. Patients may present with vomiting, dehydration, lethargy, and ... Propionic acidemia is a metabolic disorder in which a defective form of the enzyme propionyl-coenzyme A (CoA) ... encoded search term (Propionic Acidemia) and Propionic Acidemia What to Read Next on Medscape ... Biotin responsiveness may depend on the genetic heterogeneity of isolated propionic acidemia versus propionic acidemia existing ...
... carboxylase results in the accumulation of propionic acid. Patients may present with vomiting, dehydration, lethargy, and ... Propionic acidemia is a metabolic disorder in which a defective form of the enzyme propionyl-coenzyme A (CoA) ... encoded search term (Propionic Acidemia) and Propionic Acidemia What to Read Next on Medscape ... Biotin responsiveness may depend on the genetic heterogeneity of isolated propionic acidemia versus propionic acidemia existing ...
Share info and advice with people concerned by Propionic acidemia ✓ The leading social network for patients, their family and ...
Shop online at your favorite stores and iGive donates part of what you spend to Propionic Acidemia Foundation at no extra cost ... Help Propionic Acidemia Foundation Shop normally. Nothing. to remember. Over. 1800 favorite stores &. the iGive Button make. ...
Wolf, B. ; Paulsen, E. P. ; Dreifuss, F. E. / Valproate in the treatment of seizures associated with propionic acidemia. In: ... Valproate in the treatment of seizures associated with propionic acidemia. / Wolf, B.; Paulsen, E. P.; Dreifuss, F. E. In: ... Wolf, B., Paulsen, E. P., & Dreifuss, F. E. (1981). Valproate in the treatment of seizures associated with propionic acidemia. ... Wolf, B, Paulsen, EP & Dreifuss, FE 1981, Valproate in the treatment of seizures associated with propionic acidemia, ...
Propionic acidemia. Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency). Methylmalonic acidemia (cobalamin disorders) ...
N2 - miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients plasma samples to ... AB - miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients plasma samples to ... miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients plasma samples to ... Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. In: Scientific reports ...
Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more commonly ... abstract = "Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more ... N2 - Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more ... AB - Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more ...
... which accumulates in propionic acidemia, one of the commonest organic acidemias characterized by a high incidence of cardiac ... and discusses how these may result in cardiac derangements in propionic acidemia. Key clinical and experimental findings are ... that feature cardiac complications and a state-of-the-art overview of the cardiac sequelae observed in propionic acidemia. The ... Indeed, cardiac pathologies, such as cardiomyopathy and arrhythmia, are frequently reported in organic acidemia patients, but ...
... and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients ... Propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) are disorders affecting the catabolic pathway of the branched ... in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the ... propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry. Clin Chim Acta. 1974;52 ...
Here, we use a model of propionic acidemia in the nematode Caenorhabditis elegans to identify genetic modifiers of propionate ... Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model. PLoS ... Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model. ... patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because ...
Propionic acidemia. *Propionicacidemia, see Propionic acidemia. *Propionyl-CoA carboxylase deficiency, see Propionic acidemia ...
Methylmalonic and propionic acidemias: clinical management update. Fraser, Jamie L.; Venditti, Charles P. ...
Research reveals new treatment strategy for propionic acidemia 09/15/2021. * Collaboration yields possible treatment for rare ...
Propionic Acidemia. ModernaTX, Inc. is sponsoring a study to evaluate long-term safety and clinical activity of mRNA-3927. ... Patients with propionic acidemia who have previously participated in this study will have the option to enroll into this ...
PROPIONATE ANIONS ACCUMULATED IN PROPIONIC ACIDAEMIA INFLUENCES THE CARDIAC GENE EXPRESSION LANDSCAPE ... PROPIONATE ANIONS ACCUMULATED IN PROPIONIC ACIDAEMIA INFLUENCES THE CARDIAC GENE EXPRESSION LANDSCAPE ...
Propionic Acidemia: An Overview. Propionic Acidemia is a rare metabolic disorder characterized by the deficiency of propionyl- ... 6. Propionic Acidemia Patient Journey. 7. Propionic Acidemia Patient Population and Epidemiology Trends (In the US, EU5, and ... The Report Covers the Propionic Acidemia Epidemiology, Segmented as -. * Total Prevalent cases of Propionic Acidemia in the 7MM ... Propionic Acidemia Therapeutics Analysis. Several major pharma and biotech companies are developing therapies for Propionic ...
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene  ... Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the ... Research reported in this work was funded by Grant PAF107 from the Propionic Acidemia Foundation and by grant SAF2016-76004-R ... A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has ...
Propionic Acidemia Foundation. Deerfield, IL 60015. Jul 31, 2019. 812375. $34.82. The Compassionate Friends, Eastside, WA ...
Prevalence of propionic acidemia in China. Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, ...
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic ...
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) ... Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab ... Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr. 2016 Dec;28(6):682-693. doi: 10.1097/MOP. ... Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 2019 Sep;42(5):730-744. ...
Propionic acidemia. 1/105,000-130,00 (in the U.S.). Other disorders included in this panel ...
  • This helps distinguish it from related conditions, such as methylmalonic acidemia with homocystinuria . (medlineplus.gov)
  • 121 Mendelian pathogenic or likely pathogenic variants associated with 31 inherited diseases were detected, among these hearing loss, congenital hypothyroidism, methylmalonic acidemia, methylmalonic acidemia with homocystinuria, phenylketonuria(PKU) and benign hyperphenylalaninemia accounted for half of the carrier variants. (researchsquare.com)
  • Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. (wikipedia.org)
  • Variants that affect proteins produced from these three genes can impair the activity of methylmalonyl-CoA mutase, leading to methylmalonic acidemia. (medlineplus.gov)
  • Almasi T, Guey LT, Lukacs C, Csetneki K, Voko Z, Zelei T. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. (medlineplus.gov)
  • However, we have successfully and safely used valproate to control seizures in a patient with propionyl coenzyme A carboxylase deficiency, a disorder characterized by both hyperglycinemia and propionic acidemia. (northwestern.edu)
  • Propionic Acidemia is a rare metabolic disorder characterized by the deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of proteins. (glamandfashionnews.com)
  • Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
  • Deficiency of this dehydrogenase results in isovaleric acidemia, also known as "sweaty feet" syndrome, because accumulated isovaleric acid emits an odor that smells like sweat. (msdmanuals.com)
  • This education is important because metabolic decompensation plays a major role in the neurologic problems and sequelae observed in patients with propionic acidemia. (medscape.com)
  • This Review provides a comprehensive historical overview of all known organic acidemias that feature cardiac complications and a state-of-the-art overview of the cardiac sequelae observed in propionic acidemia. (ox.ac.uk)
  • Indeed, cardiac pathologies, such as cardiomyopathy and arrhythmia, are frequently reported in organic acidemia patients, but the underlying pathophysiological mechanisms are not well established. (ox.ac.uk)
  • The epidemiology section provides insights into the historical, current, and forecasted Propionic Acidemia epidemiology trends in the seven major countries (7MM) from 2019 to 2032. (glamandfashionnews.com)
  • Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. (medscape.com)
  • Presentation must be distinguished from all other causes, such as other organic acidemias, sepsis, and galactosemia. (medscape.com)
  • citation needed] Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia. (wikipedia.org)
  • Variants (also called mutations) in the MMUT , MMAA , MMAB , MMADHC , and MCEE genes cause methylmalonic acidemia. (medlineplus.gov)
  • Elevated metabolites of propionic acid (for example, 3-hydroxypropionate, 2-methylcitrate, tiglylglycine, propionylglycine) found in blood and urine along with normal activity of biotinidase and normal levels of methylmalonic acid. (wikipedia.org)
  • suggested that metabolites of the dysfunctional propionic acid and methylmalonic acid pathways may be selectively toxic to the endothelial cells in the basal ganglia. (medscape.com)
  • The article identifies the most promising candidates for molecular mechanisms that become aberrantly engaged by propionate anions (and its metabolites), and discusses how these may result in cardiac derangements in propionic acidemia. (ox.ac.uk)
  • Severe propionic acidemia lead to symptoms already seen in newborns. (wikipedia.org)
  • There is a high mortality rate in patients with organic acidaemias having severe insulinresistant hyperglycaemia. (elsevierpure.com)
  • In the blood and other body fluids, these organic chemical species can collectively reach concentrations of several millimolar in severe metabolic acidoses, as in the case of inherited organic acidemias, and exert powerful biological actions on the heart that are not intuitive to predict. (ox.ac.uk)
  • Mut 0 is the most severe form of methylmalonic acidemia and has the poorest outcomes. (medlineplus.gov)
  • Clinical and imaging evidence suggests that propionic acidemia predisposes patients to bilateral infarcts of the basal ganglia involving the caudate, putamen, and globus pallidus. (medscape.com)
  • The assessment part of the report embraces, in depth Propionic Acidemia commercial assessment and clinical assessment of the pipeline products under development. (researchandmarkets.com)
  • In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Propionic Acidemia collaborations, licensing, mergers and acquisition, funding, designations and other product related details. (researchandmarkets.com)
  • This segment of the Propionic Acidemia report encloses its detailed analysis of various drugs in different stages of clinical development, including phase II, I, preclinical and Discovery. (researchandmarkets.com)
  • Recent research connects propionic acidemia to the pathogenesis of ASD, opening up a new subfield of clinical research that has the potential to immediately help patients find relief from symptoms. (altmedrev.com)
  • The companies and academics that are working to assess challenges and seek opportunities that could influence Propionic Acidemia R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition. (researchandmarkets.com)
  • Several potential therapies for Propionic Acidemia are under investigation. (researchandmarkets.com)
  • With the expected launch of these emerging therapies, it is expected that there will be a significant impact on the Propionic Acidemia market size in the coming years. (researchandmarkets.com)
  • As per DelveInsight, the Propionic Acidemia Market is anticipated to evolve immensely in the coming years owing to the rising prevalent cases of Propionic Acidemia and the expected launch of upcoming therapies in the market. (glamandfashionnews.com)
  • The report covers the emerging Propionic Acidemia drugs, current treatment practices, market share of individual therapies, and current & forecasted market size from 2019 to 2032. (glamandfashionnews.com)
  • The market outlook section of the report helps to build a detailed comprehension of the historical, current and forecasted Propionic Acidemia market size by analyzing the impact of current and emerging pipeline therapies. (glamandfashionnews.com)
  • The report gives complete detail of the Propionic Acidemia market trend for each marketed drug and mid & late-stage pipeline therapies by evaluating their impact based on the annual cost of therapy, their Mechanism of Action (MOA), Route of Administration (ROA), molecule types, competition with other therapies, brand value, and their impact on the market. (glamandfashionnews.com)
  • Moderna's pipeline also includes vaccines against Epstein-Barr virus (EBV), HIV, human metapneumovirus, Zika virus, seasonal influenza, and therapies for propionic and methylmalonic acidemia, cancer and others. (biospace.com)
  • Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. (biomedcentral.com)
  • Acute management of propionic acidemia. (bvsalud.org)
  • Another competing hypothesis states that hyperammonemia, which is often associated with propionic acidemia, leads to an accumulation of glutamine and/or glutamate in astrocytes. (medscape.com)
  • miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic targets. (elsevierpure.com)
  • Propionic acidemia (PA) is a rare autosomal-recessive metabolic disease that arises from mutations in propionyl-CoA (C3-CoA) carboxylase. (rcsb.org)
  • A better understanding of disease pathogenesis contributing to the development of novel therapeutics for Propionic Acidemia. (researchandmarkets.com)
  • In 1969, using data from the original patient's sister, scientists established that propionic acidemia was a recessive disorder, and that propionic acidemia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway. (wikipedia.org)
  • Propionic acidemia is an autosomal recessive, inherited, metabolic disorder that is caused by a defective form of the enzyme propionyl-coenzyme A (CoA) carboxylase, which results in the accumulation of propionic acid . (medscape.com)
  • Propionic acidemia is classified as an inherited, autosomal recessive, organic acid disorder. (medscape.com)
  • Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. (researchandmarkets.com)
  • Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. (elsevierpure.com)
  • As a result, a substance called methylmalonic acid and other potentially toxic compounds can accumulate in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia. (medlineplus.gov)
  • Disruption in the function of methylmalonyl CoA epimerase leads to a form of methylmalonic acidemia with varied signs and symptoms. (medlineplus.gov)
  • A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. (uam.es)
  • Research efforts in the area of organic anion physiology have increased dramatically in recent years, particularly for propionate, which accumulates in propionic acidemia, one of the commonest organic acidemias characterized by a high incidence of cardiac disease. (ox.ac.uk)
  • For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. (umassmed.edu)
  • Here, we use a model of propionic acidemia in the nematode Caenorhabditis elegans to identify genetic modifiers of propionate sensitivity. (umassmed.edu)
  • The accumulation of propionic acid is known to induce differential responses in different organs. (wikipedia.org)
  • Accumulation of propionic acid apparently results in an abnormal cytochrome-c oxidase. (medscape.com)
  • Autism in patients with propionic acidemia. (ucsf.edu)
  • Methylmalonic acidemia occurs in an estimated 1 in 50,000 to 100,000 people. (medlineplus.gov)
  • RÉSUMÉ Le programme national de dépistage néonatal aux Émirats arabes unis couvre actuellement 16 maladies ou troubles : l'hyperthyroïdie congénitale, la drépanocytose, l'hyperplasie congénitale des surrénales, le déficit en biotinidase ainsi que 12 troubles des acides aminés, organiques et gras. (who.int)
  • citation needed] In many cases, propionic acidemia can damage the brain, heart, kidney, liver, cause seizures and delays to normal development such as walking or talking. (wikipedia.org)
  • Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35,000 live births in the United States. (wikipedia.org)
  • Propionic acidemia is inherited in an autosomal recessive pattern. (researchandmarkets.com)
  • Propionic acidemia can vary in severity. (wikipedia.org)
  • The long-term effects of methylmalonic acidemia depend on which gene is altered and the severity of the variant. (medlineplus.gov)
  • Organic Acid Disorders include: Methylmalonic Acidemia (MMA), Propionic Acidemia (PPA), Multiple Carboxylase Disorders, and Glutaric Acidurias (GA), among others. (kaiserpermanente.org)
  • Patients with propionic acidemia should be started as early as possible on a low protein diet. (wikipedia.org)
  • [ 1 ] Surtees et al divided patients with propionic acidemia into two subgroups: those with early onset disease presenting in the first week of life and those with late-onset disease presenting after age 6 weeks. (medscape.com)
  • Antisense morpholino oligonucleotides directed at intronic pseudoexons have been shown to increase propionyl-CoA carboxylase activity to normal levels in fibroblast cell lines derived from patients suffering from propionic acidemia. (medscape.com)
  • Our in-depth analysis of the pipeline assets (in early-stage, mid-stage and late stage of development for the treatment of Propionic Acidemia) includes therapeutic assessment and comparative analysis. (researchandmarkets.com)
  • Individuals with propionic acidemia cannot perform this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional. (wikipedia.org)
  • Propionic acidemia affects about 1/20,000 to 1/250,000 individuals in various regions of the world. (glamandfashionnews.com)
  • About 60 percent of individuals with methylmalonic acidemia have variants in the MMUT gene. (medlineplus.gov)
  • Some cases of methylmalonic acidemia are caused by variants in the MMAA , MMAB , or MMADHC gene. (medlineplus.gov)
  • A few other cases of methylmalonic acidemia are caused by variants in the MCEE gene. (medlineplus.gov)
  • People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications. (medlineplus.gov)
  • Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. (medlineplus.gov)
  • Cardiac Complications of Propionic and Other Inherited Organic Acidemias. (ox.ac.uk)
  • This "Propionic Acidemia - Pipeline Insight, 2022," report provides comprehensive insights about 5+ companies and 5+ pipeline drugs in Propionic Acidemia pipeline landscape. (researchandmarkets.com)
  • The drug uptake section focuses on the uptake rate of potential drugs recently launched in the Propionic Acidemia market or expected to be launched during the study period. (glamandfashionnews.com)
  • Propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) are disorders affecting the catabolic pathway of the branched-chain amino acids (BCAA) L-isoleucine and L-valine, and the amino acids L-threonine and L-methionine. (biomedcentral.com)
  • Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals. (pafoundation.com)
  • Propionic Acidemia Foundation is a non-profit 501(c)3 organization. (pafoundation.com)
  • Research reported in this work was funded by Grant PAF107 from the Propionic Acidemia Foundation and by grant SAF2016-76004-R from Spanish Ministry of Economy and Competitiveness and European Regional Development Fund. (uam.es)
  • Biochemical findings are profound ketonemia and acidemia. (msdmanuals.com)
  • A detailed picture of the Propionic Acidemia pipeline landscape is provided which includes the disease overview and Propionic Acidemia treatment guidelines. (researchandmarkets.com)
  • A detailed portfolio of major pharma players who are involved in fueling the Propionic Acidemia treatment market. (researchandmarkets.com)
  • It also evaluates the current Propionic Acidemia treatment practice/algorithm, key drivers & barriers impacting the market growth, and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market. (glamandfashionnews.com)
  • Toxic buildup of propionic acid can be found in the brain and other parts of the nervous system. (medscape.com)
  • Propionic Acidemia - Pipeline Insight, 2022" report outlays comprehensive insights of present scenario and growth prospects across the indication. (researchandmarkets.com)
  • However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism, such as propionic acidemia. (hmdb.ca)