Argininosuccinic Aciduria (ARGINSA)

Alias:
Argininosuccinate Lyase Deficiency
Argininosuccinic Acid Lyase Deficiency
Argininosuccinase Deficiency
Asl Deficiency
Argininosuccinatelyase Deficiency
Arginosuccinase Deficiency
Argininosuccinic Acidemia
Asa Deficiency
Asauria
Metabolic Disorder of Arginosuccinic Acid
Deficiency of Argininosuccinate Lyase
Argininosuccinyl-Coa Lyase Deficiency
Argininosuccinic Acidaemia
Aciduria Argininosuccinic
Argininosuccinicaciduria
Citrullinemia
Arginsa
Asld
Asa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and ornithine transcarbamylase deficiency, hyperammonemia due to, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are aminoaciduria and oroticaciduria
Related ID:
MESH:D000592
ICD11:439383288

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
14
95
115

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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