KEGG   DISEASE: Nonketotic hyperglycinemia
Entry
H00191                      Disease                                
Name
Nonketotic hyperglycinemia;
Glycine encephalopathy (GCE)
Description
Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic dysfunctions.
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
     H00191  Nonketotic hyperglycinemia
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06033  Glycine, serine and arginine metabolism
   H00191  Nonketotic hyperglycinemia
Pathway
hsa00260  Glycine, serine and threonine metabolism
Network
nt06033 Glycine, serine and arginine metabolism
Gene
(GCE1) GLDC [HSA:2731] [KO:K00281]
(GCE2) AMT [HSA:275] [KO:K00605]
Other DBs
ICD-11: 5C50.70
ICD-10: E72.5
OMIM: 605899 620398
Reference
PMID:11592811
  Authors
Applegarth DA, Toone JR
  Title
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
  Journal
Mol Genet Metab 74:139-46 (2001)
DOI:10.1006/mgme.2001.3224
Reference
PMID:15864413
  Authors
Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S
  Title
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
  Journal
J Hum Genet 50:230-4 (2005)
DOI:10.1007/s10038-005-0243-y
Reference
PMID:10873393 (GCE1)
  Authors
Toone JR, Applegarth DA, Coulter-Mackie MB, James ER
  Title
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
  Journal
Mol Genet Metab 70:116-21 (2000)
DOI:10.1006/mgme.2000.3000
Reference
PMID:8005589 (GCE2)
  Authors
Nanao K, Okamura-Ikeda K, Motokawa Y, Danks DM, Baumgartner ER, Takada G, Hayasaka K
  Title
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
  Journal
Hum Genet 93:655-8 (1994)
DOI:10.1007/BF00201565

» Japanese version

  All links  
Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (13)   

Download RDF
DBGET integrated database retrieval system