KEGG   DISEASE: Global cerebral hypomyelination
Entry
H01305                      Disease                                
Name
Global cerebral hypomyelination;
Early infantile epileptic encephalopathy 39
  Supergrp
Early infantile epileptic encephalopathy [DS:H00606]
Symptomatic generalized epilepsies [DS:H00577]
Description
Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this syndrome. AGC1 is thought to be important in providing energy for neurons in the central nervous system.
Category
Inherited metabolic disorder, Mitochondrial disease
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
     H01305  Global cerebral hypomyelination
Gene
SLC25A12 [HSA:8604] [KO:K15105]
Other DBs
ICD-11: 5C53.30
MeSH: C567847
OMIM: 612949
Reference
PMID:19641205
  Authors
Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A
  Title
AGC1 deficiency associated with global cerebral hypomyelination.
  Journal
N Engl J Med 361:489-95 (2009)
DOI:10.1056/NEJMoa0900591
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