KEGG   DISEASE: Glycine encephalopathy with normal serum glycine
Entry
H02419                      Disease                                
Name
Glycine encephalopathy with normal serum glycine
Description
Glycine encephalopathy [DS:H00191], also known as nonketotic hyperglycinemia (NKH), is characterized by severe neurologic dysfunctions. Recently, some individuals with NKH-like symptoms but lacking the typical elevation of serum glycine have been reported. They carry mutations in the SLC6A9 gene, that encodes glycine transporter (GLYT1). GLYT1 is located predominantly on astrocytes and is essential for the clearance of glycine from the extracellular space and termination of glycinergic neurotransmission.
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
     H02419  Glycine encephalopathy with normal serum glycine
Pathway
hsa04721  Synaptic vesicle cycle
Gene
SLC6A9 [HSA:6536] [KO:K05038]
Other DBs
ICD-11: 5C50.0
ICD-10: E72.0
OMIM: 617301
Reference
PMID:27481395
  Authors
Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA
  Title
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
  Journal
Hum Genet 135:1263-1268 (2016)
DOI:10.1007/s00439-016-1719-x
Reference
PMID:14622582
  Authors
Gomeza J, Hulsmann S, Ohno K, Eulenburg V, Szoke K, Richter D, Betz H
  Title
Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.
  Journal
Neuron 40:785-96 (2003)
DOI:10.1016/s0896-6273(03)00672-x
Reference
PMID:27773429
  Authors
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN
  Title
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
  Journal
Am J Hum Genet 99:1172-1180 (2016)
DOI:10.1016/j.ajhg.2016.09.004

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

Download RDF
DBGET integrated database retrieval system