This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.
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.
An essential amino acid that is physiologically active in the L-form.
An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5.
Glutarates are organic compounds, specifically carboxylic acids, that contain a five-carbon chain with two terminal carboxyl groups and a central methyl group, playing a role in various metabolic processes, including the breakdown of certain amino acids. They can also refer to their salts or esters. Please note that this definition is concise and may not cover all aspects of glutarates in depth.

Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry. (1/21)

BACKGROUND: The concentrations of the pyrimidine "de novo" metabolites and their degradation products in urine are useful indicators for the diagnosis of an inborn error of the pyrimidine de novo pathway or a urea-cycle defect. Until now, no procedure was available that allowed the analysis of all of these metabolites in a single analytical run. We describe a rapid, specific method to measure these metabolites by HPLC-tandem mass spectrometry. METHODS: Urine or urine-soaked filter-paper strips were used to measure N-carbamyl-aspartate, dihydroorotate, orotate, orotidine, uridine, and uracil. Reversed-phase HPLC was combined with electrospray ionization tandem mass spectrometry, and detection was performed by multiple-reaction monitoring. Stable-isotope-labeled reference compounds were used as internal standards. RESULTS: All pyrimidine de novo metabolites and their degradation products were measured within a single analytical run of 14 min with lower limits of detection of 0.4-3 micromol/L. The intra- and interassay variation for urine with added compounds was 1.2-5% for urines and 2-9% for filter-paper extracts of the urines. Recoveries of the added metabolites were 97-106% for urine samples and 97-115% for filter-paper extracts of the urines. Analysis of urine samples from patients with a urea-cycle defect or pyrimidine degradation defect showed an aberrant metabolic profile when compared with controls. CONCLUSION: HPLC with electrospray ionization tandem mass spectrometry allows rapid testing for disorders affecting the pyrimidine de novo pathway. The use of filter-paper strips could facilitate collection, transport, and storage of urine samples.  (+info)

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (2/21)

Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led to an emerging, longer-lived cohort of patients. The natural history of some of these disorders began to point to pathophysiological processes that may be unrelated to the primary cause of acute morbidity and mortality, i.e., hyperammonemia. Carbamyl phosphate synthetase I single nucleotide polymorphisms may be associated with altered vascular resistance that becomes clinically relevant when specific environmental stressors are present. Patients with argininosuccinic aciduria due to a deficiency of argininosuccinic acid lyase are uniquely prone to chronic hepatitis, potentially leading to cirrhosis. Moreover, our recent observations suggest that there may be an increased prevalence of essential hypertension. In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia. An intriguing potential pathophysiological link is the dysregulation of intracellular arginine availability and its potential effect on nitric oxide (NO) metabolism. By combining detailed natural history studies with the development of tissue-specific null mouse models for urea cycle enzymes and measurement of nitrogen flux through the cycle to urea and NO in UCD patients, we may begin to dissect the contribution of different sources of arginine to NO production and the consequences on both rare genetic and common multifactorial diseases.  (+info)

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (3/21)

An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs.  (+info)

Contrasting features of urea cycle disorders in human patients and knockout mouse models. (4/21)

The urea cycle exists for the removal of excess nitrogen from the body. Six separate enzymes comprise the urea cycle, and a deficiency in any one of them causes a urea cycle disorder (UCD) in humans. Arginase is the only urea cycle enzyme with an alternate isoform, though no known human disorder currently exists due to a deficiency in the second isoform. While all of the UCDs usually present with hyperammonemia in the first few days to months of life, most disorders are distinguished by a characteristic profile of plasma amino acid alterations that can be utilized for diagnosis. While enzyme assay is possible, an analysis of the underlying mutation is preferable for an accurate diagnosis. Mouse models for each of the urea cycle disorders exist (with the exception of NAGS deficiency), and for almost all of them, their clinical and biochemical phenotypes rather closely resemble the phenotypes seen in human patients. Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders.  (+info)

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? (5/21)

 (+info)

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. (6/21)

 (+info)

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (7/21)

 (+info)

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (8/21)

Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome.  (+info)

Argininosuccinic acid is a chemical compound that is an intermediate in the metabolic pathway for the synthesis of arginine, an essential amino acid. This process occurs in the urea cycle, which is responsible for removing excess nitrogen from the body in the form of urea.

In the urea cycle, citrulline reacts with aspartate to form argininosuccinic acid, which is then converted into arginine and fumarate by the enzyme argininosuccinate lyase. Arginine is a semi-essential amino acid that plays important roles in various physiological processes, including protein synthesis, nitric oxide production, and hormone secretion.

Argininosuccinic aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This results in an accumulation of argininosuccinic acid in the blood and urine, leading to hyperammonemia (elevated levels of ammonia in the blood), neurological symptoms, and developmental delay. Treatment typically involves a low-protein diet, supplementation with arginine and citrulline, and nitrogen scavenging medications to reduce ammonia levels.

Argininosuccinic aciduria (ASA) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is necessary for the urea cycle, a process that helps rid the body of excess nitrogen produced from protein breakdown. When the urea cycle is not functioning properly, nitrogen accumulates in the form of ammonia, which can be toxic to the brain and other organs.

In ASA, argininosuccinic acid builds up in the blood and urine, giving the condition its name. Symptoms of ASA typically appear within the first few days or weeks of life and may include poor feeding, vomiting, lethargy, seizures, and developmental delay. If left untreated, ASA can lead to serious complications such as intellectual disability, coma, and even death.

Treatment for ASA usually involves a combination of dietary restrictions, medications to reduce ammonia levels, and supplementation with arginine, an amino acid that is not properly metabolized in people with ASA. In some cases, liver transplantation may be necessary. Early diagnosis and treatment are crucial for improving outcomes in individuals with ASA.

Argininosuccinate Lyase is an enzyme that plays a crucial role in the urea cycle, which is the metabolic pathway responsible for eliminating excess nitrogen waste from the body. This enzyme is responsible for catalyzing the conversion of argininosuccinate into arginine and fumarate.

The urea cycle occurs primarily in the liver and helps to convert toxic ammonia, a byproduct of protein metabolism, into urea, which can be safely excreted in urine. Argininosuccinate lyase is essential for this process, as it helps to convert argininosuccinate, an intermediate compound in the cycle, into arginine, which can then be recycled back into the urea cycle or used for other physiological processes.

Deficiencies in argininosuccinate lyase can lead to a rare genetic disorder known as citrullinemia, which is characterized by elevated levels of citrulline and ammonia in the blood, as well as neurological symptoms such as seizures, developmental delays, and intellectual disability. Treatment for citrullinemia typically involves a low-protein diet, supplementation with arginine and other essential amino acids, and in some cases, liver transplantation.

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.

Arginine is an α-amino acid that is classified as a semi-essential or conditionally essential amino acid, depending on the developmental stage and health status of the individual. The adult human body can normally synthesize sufficient amounts of arginine to meet its needs, but there are certain circumstances, such as periods of rapid growth or injury, where the dietary intake of arginine may become necessary.

The chemical formula for arginine is C6H14N4O2. It has a molecular weight of 174.20 g/mol and a pKa value of 12.48. Arginine is a basic amino acid, which means that it contains a side chain with a positive charge at physiological pH levels. The side chain of arginine is composed of a guanidino group, which is a functional group consisting of a nitrogen atom bonded to three methyl groups.

In the body, arginine plays several important roles. It is a precursor for the synthesis of nitric oxide, a molecule that helps regulate blood flow and immune function. Arginine is also involved in the detoxification of ammonia, a waste product produced by the breakdown of proteins. Additionally, arginine can be converted into other amino acids, such as ornithine and citrulline, which are involved in various metabolic processes.

Foods that are good sources of arginine include meat, poultry, fish, dairy products, nuts, seeds, and legumes. Arginine supplements are available and may be used for a variety of purposes, such as improving exercise performance, enhancing wound healing, and boosting immune function. However, it is important to consult with a healthcare provider before taking arginine supplements, as they can interact with certain medications and have potential side effects.

Argininosuccinate synthase (ASS) is a urea cycle enzyme that plays a crucial role in the detoxification of ammonia in the body. This enzyme catalyzes the reaction that combines citrulline and aspartate to form argininosuccinate, which is subsequently converted to arginine and fumarate in the urea cycle.

The reaction catalyzed by argininosuccinate synthase is as follows:

Citrulline + Aspartate + ATP → Argininosuccinate + AMP + PPi

Deficiency in argininosuccinate synthase leads to a genetic disorder known as citrullinemia, which is characterized by an accumulation of ammonia in the blood and neurodevelopmental abnormalities. There are two forms of citrullinemia, type I and type II, with type I being more severe and caused by mutations in the ASS1 gene located on chromosome 9q34.

Glutarates are compounds that contain a glutaric acid group. Glutaric acid is a carboxylic acid with a five-carbon chain and two carboxyl groups at the 1st and 5th carbon positions. Glutarates can be found in various substances, including certain foods and medications.

In a medical context, glutarates are sometimes used as ingredients in pharmaceutical products. For example, sodium phenylbutyrate, which is a salt of phenylbutyric acid and butyric acid, contains a glutaric acid group and is used as a medication to treat urea cycle disorders.

Glutarates can also be found in some metabolic pathways in the body, where they play a role in energy production and other biochemical processes. However, abnormal accumulation of glutaric acid or its derivatives can lead to certain medical conditions, such as glutaric acidemia type I, which is an inherited disorder of metabolism that can cause neurological symptoms and other health problems.

Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
... which can explain the developmental delay in argininosuccinic aciduria patients. One mutation in patients with argininosuccinic ... Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in ... aciduria occurs when glutamine 286 is mutated to arginine. The enzyme now has a positively charged arginine in place of a ...
"Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human ... Argininosuccinic acid is a non-proteinogenic amino acid that is an important intermediate in the urea cycle. It is a basic ... Some cells synthesize argininosuccinic acid from citrulline and aspartic acid and use it as a precursor for arginine in the ... Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. Argininosuccinate ...
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ...
Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia ... Most urea cycle disorders are associated with hyperammonemia, however argininemia and some forms of argininosuccinic aciduria ...
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky ...
ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 ... AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true ... MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; ... LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2 ...
1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in 100,000 Citrullinemia (CIT) < 1 in 100,000 Phenylketonuria (PKU) > 1 in ... 1 in 75,000 Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in ... Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase ...
... argininosuccinic aciduria and homocystinuria César-Mansuète Despretz (1791-1863) - chemist and physicist who investigated ...
... antibodies against sperm antigens Argininosuccinic aciduria, a disorder of the urea cycle ASA physical status classification ...
7p22.1 microduplication syndrome argininosuccinic aciduria cerebral cavernous malformation Charcot-Marie-Tooth disease ...
Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...
Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria ...
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... medlineplus.gov/genetics/condition/argininosuccinic-aciduria/ Argininosuccinic aciduria. ... Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed ...
Argininosuccinic aciduria is an autosomal recessive disorder characterized by hyperammonemia due to defects in the ... The late-onset form of argininosuccinic aciduria is milder and symptoms, usually episodic, appear as a result of infection or ... Among 82 patients, three were diagnosed with argininosuccinic aciduria.. In a 10-year study conducted by Al-Riyami et al. (2012 ... 2010) estimated the incidence of argininosuccinic aciduria as 4 in 100,000 live births in a review study conducted between 1983 ...
Argininosuccinic aciduria. More than 130 mutations in the ASL gene have been found to cause argininosuccinic aciduria. In some ... Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis. 2005;28(6):877 ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/ ... in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. Tohoku J Exp Med. 2002 Oct;198(2):119-24. doi ...
Isabella O. , California , Patient Age: 7 , Disorder: Arginosuccinic Aciduria. My daughters metabolic disorder is very rare ... She also struggles with new… Read More »Isabella O. , California , Patient Age: 7 , Disorder: Arginosuccinic Aciduria ...
Argininosuccinic aciduria. Citrullinemia, type I. Maple syrup urine disease. Homocystinuria. Classic phenylketonuria ... low excretor variants of glutaric aciduria type 1, intermittent findings of fatty acid oxidation disorders, or normal analyte ...
Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from ... From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.. Zielonka, Matthias; Garbade, ... Aciduria Argininosuccínica/diagnóstico Aciduria Argininosuccínica/genética Estudios de Asociación Genética Predisposición ... Aciduria Argininosuccínica/metabolismo Biomarcadores Niño Preescolar Activación Enzimática Femenino Expresión Génica Estudios ...
Patients with citrullinemia, caused by a deficiency of AS, or argininosuccinic aciduria, caused by a deficiency of AL, will ... Argininosuccinic aciduria results from a deficiency in arginosuccinic lyase, preventing the formation of arginine. Patients ... Argininosuccinic aciduria results from a deficiency in arginosuccinic lyase, preventing the formation of arginine ... A useful adjunct to treatment in cases of citrullinemia and argininosuccinic aciduria is supplementation of the diet with ...
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nat. Commun. 9, 3505 (2018). ...
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum ... Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE ...
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429- ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum ... Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med ... A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE ...
Argininosuccinic aciduria: MedlinePlus Genetics (National Library of Medicine) * Aromatic l-amino acid decarboxylase deficiency ... 2-hydroxyglutaric aciduria: MedlinePlus Genetics (National Library of Medicine) * 3-hydroxy-3-methylglutaryl-CoA lyase ... Combined malonic and methylmalonic aciduria: MedlinePlus Genetics (National Library of Medicine) * Dentatorubral-pallidoluysian ...
Argininosuccinic aciduria (argininosuccinate lyase deficiency). *Citrullinaemia (argininosuccinate synthetase deficiency, ... Methylmalonic acidurias (mutase deficiency, CblA, CblB, CblC, CblD defects). *Propionic acidaemia (propionyl-CoA carboxylase ...
ASA) Argininosuccinic aciduria*. *(CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency*. *(HCY) Homocystinuria ( ...
... argininosuccinic aciduria); arginase deficiency (ARGD, argininemia); hyperornithinemia, hyperammonemia, homocitrullinuria (HHH ...
Histidinemia Hyperhistidinemia Imidazole aminoaciduria 270.6 Disorders of urea cycle metabolism Argininosuccinic aciduria ... Glutaric aciduria type II (type IIA, IIB, IIC) Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD) Long chain/very ... Other specified disorders of carbohydrate transport and metabolism Essential benign pentosuria Fucosidosis Glycolic aciduria ... Citrullinemia Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia Hyperammonemia ...
"Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.." Am. J. Hum. Genet.. 2012 ...
... argininosuccinic aciduria, hyperargininaemia and ornithine translocase deficiency (hyperornithinaemia-hyperammonaemia ...
Argininosuccinic Aciduria (ASA). Argininosuccinic aciduria is a disorder where the enzyme argininosuccinate lyase is ... MedlinePlus Genetics, Argininosuccinic Aciduria, 1 Mar. 2020.. *Gerald Litwack, Chapter 13 - Metabolism of Amino Acids, Human ... and Argininosuccinic aciduria, where the enzyme argininosuccinate lyase is dysfunctional or missing. ...
keywords = "Anhydrides of argininosuccinate, Argininosuccinic aciduria, Metabolic disorders, Nuclear magnetic resonance, Urea ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. Clinica ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. / Burns ... An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. ...
The ICD code E722 is used to code Argininosuccinic aciduria Argininosuccinic aciduria, also called argininosuccinic acidemia, ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as ASA) in the blood and urine. ...
Argininosuccinic Aciduria Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Short/Branched Chain Acyl-CoA Dehydrogenase ...
Argininosuccinic aciduria From NCATS Genetic and Rare Diseases Information Center File Formats Help:. How do I view different ...
Argininosuccinic aciduria. Björnstad syndrome. Crandall syndrome. Salti-Salem syndrome. Tay syndrome. Conradi-Hünermann ...
3-Methylglutaconic Aciduria. Argininemia. Argininosuccinic Aciduria. Benign Hyperphenylalaninemia. Beta-Ketothiolase Deficiency ... 3-Hydroxy-3-Methylglutaric Aciduria. 3-Methylcrotonyl-CoA Carboxylase Deficiency. Argininosuccinic Aciduria. Beta-Ketothiolase ... 3-Hydroxy-3-Methylglutaric Aciduria. 3-Methylcrotonyl-CoA Carboxylase Deficiency. ...
Methylmalonic aciduria, vitamin B12-responsive, type cblA. 251100. MMAA. 607481. 106. Methylmalonic aciduria, vitamin B12- ...
Argininosuccinic aciduria. Argininosuccinate lyase (argininosuccinase). episodic symptoms similar to classic citrullinemia, ... Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an ...
argininosuccinic aciduria DOID:14755 * congenital bile acid synthesis defect DOID:0050674 * congenital muscular dystrophy ...
Argininosuccinic aciduria(ASL). Ataxia-telangiectasia(ATM). Autosomal recessive polycystic kidney disease(PKHD1). Bardet-Biedl ... Methylmalonic aciduria, MMAA-related(MMAA). Methylmalonic aciduria, MMAB-related(MMAB). Methylmalonic aciduria, MUT-related( ... Methylmalonic aciduria, MMAA-related(MMAA). Methylmalonic aciduria, MMAB-related(MMAB). Methylmalonic aciduria, MUT-related( ... Argininosuccinic aciduria(ASL). Ataxia-telangiectasia(ATM). Autosomal recessive polycystic kidney disease(PKHD1). Bardet-Biedl ...
  • Patients with citrullinemia, caused by a deficiency of AS , or argininosuccinic aciduria, caused by a deficiency of AL , will manifest marked increases of blood citrulline and argininosuccinate, respectively. (nih.gov)
  • The presence of hyperammonemia, hyperglutaminemia, hyperalaninemia and orotic aciduria in a critically ill infant affords strong presumptive evidence for OTC deficiency. (nih.gov)
  • Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (medscape.com)
  • Burns, SP & Iles, RA 1993, ' An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy ', Clinica Chimica Acta , vol. 221, no. 1-2. (hud.ac.uk)
  • Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. (antibodypedia.com)
  • Primary urea cycle disorders (UCDs) include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), arginase deficiency (argininemia), and N -acetylglutamate synthetase (NAGS) deficiency. (msdmanuals.com)
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
  • Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. (medlineplus.gov)
  • This occurs in patients with argininosuccinic aciduria, despite the fact that formation of this substance ensures incorporation of the 2 waste nitrogen molecules normally found in urea. (medscape.com)
  • Mutations in the ASL gene cause argininosuccinic aciduria. (wikipedia.org)
  • More than 130 mutations in the ASL gene have been found to cause argininosuccinic aciduria. (medlineplus.gov)
  • Argininosuccinic aciduria is an autosomal recessive disorder characterized by hyperammonemia due to defects in the Argininosuccinate Lyase (ASL) gene. (cags.org.ae)
  • Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (wikipedia.org)
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (medlineplus.gov)
  • Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. (wikipedia.org)
  • Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
  • This buildup of ammonia damages the brain and other tissues and causes neurological problems and other signs and symptoms of argininosuccinic aciduria. (medlineplus.gov)
  • Of 5 of your relevant recessive urea cycle and also other relevant problems, only ASL (argininosuccinic aciduria) and PCCA (propionic aciduria) mapped to the ROHs, but these diagnostic possibilities had been ruled out by biochemical studies. (adenosine-kinase.com)
  • Elevated levels of argininosuccinic acid (5-110 μmol/L) in the plasma or urine are diagnostic. (wikipedia.org)
  • On 12 December 2017, orphan designation (EU/3/17/1952) was granted by the European Commission to PhaseRx Ireland, Ltd, Ireland, for modified messenger ribonucleic acid encoding human argininosuccinate lyase enzyme encapsulated into lipid nanoparticles (also known as PRX-ASL) for the treatment of argininosuccinic aciduria. (web.app)
  • An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
  • An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. (medlineplus.gov)
  • Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
  • citation needed] In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing. (wikipedia.org)
  • Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births. (wikipedia.org)
  • Argininosuccinic aciduria occurs in approximately 1 in 70,000 to 218,000 newborns. (medlineplus.gov)
  • The late-onset form of argininosuccinic aciduria is milder and symptoms, usually episodic, appear as a result of infection or stress. (cags.org.ae)
  • The following are associated with this condition: argininosuccinic aciduria, Menke's kinky hair syndrome, Trichothiodystrophy, and Netherton's syndrome. (nextstepsinderm.com)
  • Complications from argininosuccinic aciduria may include developmental delay and mental retardation. (wikipedia.org)
  • An infant with Argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. (nih.gov)
  • An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
  • When Do Symptoms of Argininosuccinic aciduria Begin? (nih.gov)
  • This buildup of ammonia damages the brain and other tissues and causes neurological problems and other signs and symptoms of argininosuccinic aciduria. (medlineplus.gov)
  • Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. (nih.gov)
  • Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from individuals with lethal hyperammonemic encephalopathy , liver dysfunction , and cognitive deterioration, to individuals with a mild disease course . (bvsalud.org)
  • Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (wikipedia.org)
  • Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA . (nih.gov)
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (nih.gov)
  • Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
  • Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
  • Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life. (chemeurope.com)
  • The inherited - and rare - genetic disorder, called Argininosuccinic Aciduria, affects a baby's ability to metabolize proteins, causing high ammonia levels in the blood, according to the court documents. (dailyguardian.ca)
  • Two classes of such metabolites are the urea-cycle intermediates--including citrulline, argininosuccinic acid, and arginine--and the aminoacid acylation products--hippuric acid (the glycine conjugate of benzoic acid) and phenylactylglutamine (the glutamine conjugate of phenylactic acid). (nih.gov)
  • citation needed] In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing. (wikipedia.org)
  • Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. (wikipedia.org)
  • C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. (nih.gov)
  • Inherited as an autosomal recessive trait, argininosuccinic aciduria affects both sexes equally. (medscape.com)
  • Complications from Argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. (nih.gov)
  • Complications from argininosuccinic aciduria may include developmental delay and mental retardation. (wikipedia.org)
  • Mutations in the ASL gene cause argininosuccinic aciduria. (wikipedia.org)
  • Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. (nih.gov)
  • Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C84585 Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. (nih.gov)
  • Of 5 of your relevant recessive urea cycle and also other relevant problems, only ASL (argininosuccinic aciduria) and PCCA (propionic aciduria) mapped to the ROHs, but these diagnostic possibilities had been ruled out by biochemical studies. (adenosine-kinase.com)