KEGG   DISEASE: AMP deaminase deficiency
Entry
H02237                      Disease                                

Name
AMP deaminase deficiency
  Subgroup
Myoadenylate deaminase deficiency
Erythrocytic AMP deaminase deficiency
Description
AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) was discovered in patients with muscle weakness and cramping after exercise, and the mutations in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H02237  AMP deaminase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H02237  AMP deaminase deficiency
Pathway
hsa00230  Purine metabolism
Gene
AMPD1 [HSA:270] [KO:K01490]
AMPD3 [HSA:272] [KO:K01490]
Other DBs
ICD-11: 5C55.0Y
ICD-10: G71.3
MeSH: C538234
OMIM: 615511 612874
Reference
  Authors
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M
  Title
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
  Journal
Neuromuscul Disord 10:472-7 (2000)
DOI:10.1016/S0960-8966(00)00127-9
Reference
PMID:8004104
  Authors
Yamada Y, Goto H, Ogasawara N
  Title
A point mutation responsible for human erythrocyte AMP deaminase deficiency.
  Journal
Hum Mol Genet 3:331-4 (1994)
DOI:10.1093/hmg/3.2.331
LinkDB

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