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
  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
  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
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