KEGG   DISEASE: X-linked creatine deficiency syndromeHelp
Entry
H02196                      Disease                                

Name
X-linked creatine deficiency syndrome
  Supergrp
Syndromic X-linked mental retardation [DS:H00658]
Cerebral creatine deficiency syndrome [DS:H00849]
Description
Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset and mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02196  X-linked creatine deficiency syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02196  X-linked creatine deficiency syndrome
BRITE hierarchy
Gene
SLC6A8 [HSA:6535] [KO:K05041]
Other DBs
ICD-11: 5C53.4
ICD-10: E72.8
MeSH: C535598
OMIM: 300352
Reference
  Authors
Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G
  Title
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
  Journal
Am J Med Genet A 143A:1771-4 (2007)
DOI:10.1002/ajmg.a.31827
Reference
  Authors
Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G
  Title
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
  Journal
Ann Neurol 52:227-31 (2002)
DOI:10.1002/ana.10246

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