KEGG   DISEASE: Citrullinemia
Entry
H00185                      Disease                                

Name
Citrullinemia;
Argininosuccinate synthase deficiency
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00185  Citrullinemia
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
     H00185  Citrullinemia
Pathway
hsa00220  Arginine biosynthesis
hsa00250  Alanine, aspartate and glutamate metabolism
Network
nt06010  Urea cycle
  Element
N00596  ASS deficiency in urea cycle
Gene
(CTLN1) ASS1; argininosuccinate synthetase 1 [HSA:445] [KO:K01940]
(CTLN2) SLC25A13 [HSA:10165] [KO:K15105]
Drug
Sodium phenylbutyrate [DR:D05868]
Other DBs
ICD-11: 5C50.A3
ICD-10: E72.2
MeSH: D020159
OMIM: 215700 603471 605814
Reference
  Authors
Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Hohne W, Koch HG, Rolinski B, Gempel K, Haberle J
  Title
Investigation of citrullinemia type I variants by in vitro expression studies.
  Journal
Hum Mutat 29:1222-7 (2008)
DOI:10.1002/humu.20784
Reference
  Authors
Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y
  Title
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
  Journal
Mol Genet Metab 81 Suppl 1:S20-6 (2004)
DOI:10.1016/j.ymgme.2004.01.006

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