KEGG   DISEASE: Hyperargininemia
Entry
H00186                      Disease                                
Name
Hyperargininemia
  Supergrp
Primary hyperammonemia (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 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
     H00186  Hyperargininemia
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06010  Urea cycle
   H00186  Hyperargininemia
 Cellular process
  nt06535  Efferocytosis
   H00186  Hyperargininemia
Pathway
hsa00220  Arginine biosynthesis
Network
nt06010 Urea cycle
nt06535 Efferocytosis
Gene
ARG1 [HSA:383] [KO:K01476]
Other DBs
ICD-11: 5C50.A2
ICD-10: E72.2
MeSH: D020162
OMIM: 207800
Reference
PMID:16602094
  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
PMID:15694174
  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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