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ARGINSA
MCID: ARG002
MIFTS: 59
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Argininosuccinic Aciduria (ARGINSA)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Argininosuccinic Aciduria:
Characteristics:Orphanet epidemiological data:60
argininosuccinic aciduria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Finland),1-9/100000 (Europe); Age of onset: All ages,Neonatal; Age of death: any age,infantile; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in neonatal period or infancy prevalence is estimated to be 1 in 150,000 HPO:33
argininosuccinic aciduria:
Onset and clinical course neonatal onset Inheritance autosomal recessive inheritance Classifications:
ICD10:
35
External Ids:
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NIH Rare Diseases
:
54
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. The condition is caused by mutations in the ASL gene and is inherited in an autosomal recessive pattern. Long-term management includes dietary restriction of protein and supplementation with arginine. Acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis may be necessary.
MalaCards based summary : Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and argininemia, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. The drugs Nitric Oxide and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and brain, and related phenotypes are aminoaciduria and oroticaciduria Disease Ontology : 12 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. Genetics Home Reference : 26 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. OMIM : 58 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency, and arginase deficiency (207800). Erez (2013) reviewed argininosuccinic aciduria and progress in understanding it as a monogenic disorder that, like other inborn errors of metabolism, manifests as a multifactorial disorder at the phenotypic level. (207900) UniProtKB/Swiss-Prot : 76 Argininosuccinic aciduria: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. Wikipedia : 77 Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic... more...
GeneReviews:
NBK51784
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Human phenotypes related to Argininosuccinic Aciduria:60 33 (show all 28)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:207900UMLS symptoms related to Argininosuccinic Aciduria:seizures, ataxia, vomiting, lethargy MGI Mouse Phenotypes related to Argininosuccinic Aciduria:47
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Drugs for Argininosuccinic Aciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:
Cochrane evidence based reviews: argininosuccinic aciduria |
MalaCards organs/tissues related to Argininosuccinic Aciduria:42
Liver,
Skin,
Brain,
Testes,
Kidney,
Endothelial,
Breast
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Articles related to Argininosuccinic Aciduria:(show top 50) (show all 126)
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Genes related to Argininosuccinic Aciduria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Argininosuccinic Aciduria:76 (show top 50) (show all 59)
ClinVar genetic disease variations for Argininosuccinic Aciduria:6 (show top 50) (show all 227)
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Search
GEO
for disease gene expression data for Argininosuccinic Aciduria.
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Pathways related to Argininosuccinic Aciduria according to KEGG:38
Pathways related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:
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Cellular components related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:
Biological processes related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:
Molecular functions related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:
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