KEGG DISEASE: Citrullinemia

DISEASE: Citrullinemia

Entry

H00185                      Disease

Name

Citrullinemia

Subgroup

Argininosuccinate synthase deficiency (CTLN1)
Citrin deficiency (CTLN2)

Supergrp

Primary hyperammonemia (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 disorder

Brite

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-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06010  Urea cycle
   H00185  Citrullinemia

Pathway

hsa00220

Arginine biosynthesis

Network

nt06010 Urea cycle

Gene

(CTLN1) ASS1 [HSA:445] [KO:K01940]
(CTLN2) SLC25A13 [HSA:10165] [KO:K15105]

Drug

Sodium phenylbutyrate [DR:D05868]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18473344 (ASS1)

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

PMID:15050970 (SLC25A13)

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

Reference

PMID:12424587 (SLC25A13)

Authors

Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T

Title

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.

Journal

Eur J Pediatr 161:609-13 (2002)
DOI:10.1007/s00431-002-1045-2

LinkDB

» Japanese version

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