Argininosuccinic Acid
Argininosuccinic Aciduria
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.
Argininosuccinate Lyase
Amino Acid Metabolism, Inborn Errors
Argininosuccinate Synthase
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)
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.gov
Argininosuccinic Aciduria - NORD (National Organization for Rare Disorders)
Argininosuccinic Aciduria; Arginino Succinase Deficiency
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Requirement of argininosuccinate lyase for systemic nitric oxide production<...
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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate...
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells<...
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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 ...
Argininosuccinate lyase
... 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 ...
Charles Enrique Dent
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ...
Urea cycle
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 ...
Trichorrhexis nodosa
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky ...
List of OMIM disorder codes
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 ...
List of disorders included in newborn screening programs
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 ...
List of lay Catholic scientists
... argininosuccinic aciduria and homocystinuria César-Mansuète Despretz (1791-1863) - chemist and physicist who investigated ...
ASA
... antibodies against sperm antigens Argininosuccinic aciduria, a disorder of the urea cycle ASA physical status classification ...
Chromosome 7
... argininosuccinic aciduria cerebral cavernous malformation Charcot-Marie-Tooth disease Cholestasis, progressive familial ...
Newborn screening
Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...
List of diseases (A)
Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria ...
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Argininosuccinic aciduria: MedlinePlus Genetics
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 ...
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Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond | Read by QxMD
... and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA). ASA is an autosomal ... Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. N R Glick, P ... Optimizing therapy for argininosuccinic aciduria. Sandesh C S Nagamani, Brendan Lee, Ayelet Erez Molecular Genetics and ... Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. Bee Chin Chen, Lock Hock Ngu, Md ...
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1958), onset of symptoms of argininosuccinic aciduria occurs in the first weeks ... Two forms of argininosuccinic aciduria have ... Argininosuccinic aciduria General Information (adopted from Orphanet):. Synonyms, Signs: ASLD. Argininosuccinase deficiency. ... Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. As ... Argininosuccinic aciduria belongs to the class of urea cycle disorders. It is caused by mutations in the gene ASL encoding the ...
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Argininosuccinate Lyase (ASL) Deficiency Differential Diagnoses
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 ...
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Argininosuccinic Acid Lyase Deficiency Argininosuccinic Acidemia Argininosuccinic Acidurias Argininosuccinicaciduria ... Argininosuccinic Acid Lyase Deficiency. Argininosuccinic Acidemia. Argininosuccinic Acidurias. Argininosuccinicaciduria. ... Aciduria, Argininosuccinic Acidurias, Argininosuccinic Arginino Succinase Deficiencies Arginino Succinase Deficiency ... Aciduria, Argininosuccinic. Acidurias, Argininosuccinic. Arginino Succinase Deficiencies. Arginino Succinase Deficiency. ...
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These are helpful in confirming argininosuccinic aciduria; lysinuric protein intolerance; or hyperornithinemia, hyperammonemia ... The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ... Compound 3 is aspartic acid, which is combined with citrulline to form argininosuccinic acid (4); the reaction is mediated by ... such as increased citrulline or argininosuccinic acid levels. ...
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Deficiency6
- Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA). (qxmd.com)
- In addition to the accumulation of argininosuccinic acid, ASL deficiency results in decreased synthesis of arginine, a feature common to all UCDs except argininemia. (qxmd.com)
- While patients with ASA share the acute clinical phenotype of hyperammonemia, encephalopathy, and respiratory alkalosis common to other UCD, they also present with unique chronic complications most probably caused by a combination of tissue specific deficiency of arginine and/or elevation of argininosuccinic acid. (qxmd.com)
- Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (medscape.com)
- Differential diagnoses include carbamoyl-phosphate synthetase deficiency, argininosuccinic aciduria, hyperammonemia due to N-acetylglutamate synthase deficiency, citrullinemia type 1 and argininemia. (orpha.net)
- Further testing is needed to differentiate among citrullinemias I and II, argininosuccinic aciduria, and pyruvate carboxylase deficiency by molecular genetic analysis. (medicalhomeportal.org)
Citrullinemia1
- Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (medscape.com)
Urea cycle dis1
- Argininosuccinic aciduria belongs to the class of urea cycle disorders. (helmholtz-muenchen.de)
Citrullinaemia1
- Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. (harvard.edu)
Neonatal2
- Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (qxmd.com)
- Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (medscape.com)
Inherited disorder1
- Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (medlineplus.gov)
Prenatal1
- Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (medlineplus.gov)
Genetic1
- Certain primary genetic causes can be suspected based on specific increases in amino acid levels, such as increased citrulline or argininosuccinic acid levels. (medscape.com)
Hyperammonemia1
- Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA . (bvsalud.org)
Acid2
- Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourth reaction in the cycle and the first degradative step, that is, the breakdown of argininosuccinic acid to arginine and fumarate. (qxmd.com)
- It is caused by mutations in the gene ASL encoding the enzyme argininosuccinic acid lyase, one of the six enzymes and two transporters involved in the detoxification of ammonium to urea (PMID:22241104). (helmholtz-muenchen.de)
Biochemical3
- A mouse model of argininosuccinic aciduria: biochemical characterization. (qxmd.com)
- Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (qxmd.com)
- Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (qxmd.com)
Metabolic2
- Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. (harvard.edu)
- When it does run in families, it is occasionally associated with mental retardation from an underlying metabolic problem (argininosuccinic aciduria - don't worry about the name). (drgreene.com)
Complications2
- Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. (medlineplus.gov)
- Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. (qxmd.com)
Ammonia2
- 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 condition that causes dangerous amounts of ammonia to build up in the body. (floridanewbornscreening.com)
Liver1
- Zimmermann A, Bachmann C, Baumgartner R. Severe liver fibrosis in argininosuccinic aciduria. (medscape.com)
Mutations1
- Mutations in the ASL gene cause argininosuccinic aciduria. (medlineplus.gov)
Lyase2
- In people with argininosuccinic aciduria, argininosuccinate lyase is dysfunctional or missing. (medlineplus.gov)
- Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. (t3db.ca)
Patients with argininosuccinic1
- 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)
Autosomal2
- 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)
Urea Cycle Dis1
- In 2006, he joined the lab of Dr. Brendan Lee, Baylor College of Medicine, where he studied the natural history of urea cycle disorders including argininosuccinic aciduria. (nih.gov)
Dicarboxylic1
- Non-ketotic dicarboxylic aciduria? (fajrlab.com)
Acidemia1
- Su ausencia en el hombre conduce a la enfermedad metabólica conocida como acidemia argininosuccínica. (bvsalud.org)
Gene1
- Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. (ucl.ac.uk)
Urine1
- This leads to an accumulation of ASA in cells and an excessive excretion of ASA in urine (arginosuccinic aciduria). (t3db.ca)
Occurs1
- Argininosuccinic aciduria occurs in approximately 1 in 70,000 to 218,000 newborns. (medlineplus.gov)
70,0001
- The prevalence at birth of argininosuccinic aciduria (ASA) ranges between 1/70,000-218,000 worldwide. (orpha.net)
Body1
- 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)