KEGG   DISEASE: Argininosuccinic aciduria
Entry
H01028                      Disease                                

Name
Argininosuccinic aciduria;
Argininosuccinate lyase deficiency
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA 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.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01028  Argininosuccinic aciduria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01028  Argininosuccinic aciduria
Pathway
hsa00220  Arginine biosynthesis
hsa00250  Alanine, aspartate and glutamate metabolism
Network
nt06010  Urea cycle
  Element
N00595  ASL deficiency in urea cycle
Gene
ASL [HSA:435] [KO:K01755]
Other DBs
ICD-11: 5C50.A0
ICD-10: E72.2
MeSH: D056807
OMIM: 207900
Reference
  Authors
Nagamani SCS, Erez A, Lee B
  Title
Argininosuccinate Lyase Deficiency
  Journal
GeneReviews (1993)
Reference
  Authors
Imtiaz F, Al-Sayed M, Trabzuni D, Al-Mubarak BR, Alsmadi O, Rashed MS, Meyer BF
  Title
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
  Journal
BMC Res Notes 3:79 (2010)
DOI:10.1186/1756-0500-3-79
Reference
PMID:11148543 (therapy)
  Title
Consensus statement from a conference for the management of patients with urea cycle disorders.
  Journal
J Pediatr 138:S1-5 (2001)
DOI:10.1067/mpd.2001.111830
Reference
PMID:22541557 (therapy)
  Authors
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B
  Title
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
  Journal
Am J Hum Genet 90:836-46 (2012)
DOI:10.1016/j.ajhg.2012.03.018

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