KEGG DISEASE: X-linked creatine deficiency syndrome

KEGG

DISEASE: X-linked creatine deficiency syndrome

Entry

H02196                      Disease

Name

X-linked creatine deficiency syndrome

Supergrp

X-linked syndromic intellectual developmental disorder [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 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

Inherited metabolic disorder

Brite

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

Gene

SLC6A8 [HSA:6535] [KO:K05041]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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