KEGG DISEASE: Carbamoyl phosphate synthetase I deficiency

DISEASE: Carbamoyl phosphate synthetase I deficiency

Entry

H00164                      Disease

Name

Carbamoyl phosphate synthetase I deficiency

Supergrp

Primary hyperammonemia (Urea cycle disorders) [DS:H01398]

Description

Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia.

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
     H00164  Carbamoyl phosphate synthetase I deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06010  Urea cycle
   H00164  Carbamoyl phosphate synthetase I deficiency

Pathway

hsa00220

Arginine biosynthesis

Network

nt06010 Urea cycle

Gene

CPS1 [HSA:1373] [KO:K01948]

Drug

Sodium phenylbutyrate [DR:D05868]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:17310273

Authors

Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T

Title

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Journal

J Hum Genet 52:349-54 (2007)
DOI:10.1007/s10038-007-0122-9

Reference

PMID:9711878

Authors

Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A

Title

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Journal

Hum Mutat 12:206-11 (1998)
DOI:10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Drug (1)   
   KEGG DRUG (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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