KEGG   DISEASE: Hyperargininemia
Entry
H00186                      Disease                                

Name
Hyperargininemia
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00186  Hyperargininemia
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
     H00186  Hyperargininemia
Pathway
hsa00220  Arginine biosynthesis
hsa00330  Arginine and proline metabolism
Network
nt06010  Urea cycle
  Element
N00594  ARG1 deficiency in urea cycle
Gene
ARG1; arginase [HSA:383] [KO:K01476]
Other DBs
ICD-11: 5C50.A2
ICD-10: E72.2
MeSH: D020162
OMIM: 207800
Reference
  Authors
Scaglia F, Lee B
  Title
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
  Journal
Am J Med Genet C Semin Med Genet 142C:113-20 (2006)
DOI:10.1002/ajmg.c.30091
Reference
  Authors
Crombez EA, Cederbaum SD
  Title
Hyperargininemia due to liver arginase deficiency.
  Journal
Mol Genet Metab 84:243-51 (2005)
DOI:10.1016/j.ymgme.2004.11.004

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