KEGG   DISEASE: D-glyceric aciduria
Entry
H02380                      Disease                                

Name
D-glyceric aciduria
Description
D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding D-glycerate kinase cause this disease.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02380  D-glyceric aciduria
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
     H02380  D-glyceric aciduria
Pathway
hsa00030 Pentose phosphate pathway   
hsa00260 Glycine, serine and threonine metabolism   
hsa00630 Glyoxylate and dicarboxylate metabolism   
hsa00561 Glycerolipid metabolism   
Gene
GLYCTK [HSA:132158] [KO:K11529]
Other DBs
ICD-11: 5C50.7Y
ICD-10: E74.8
MeSH: C535767
OMIM: 220120
Reference
PMID:2165585
  Authors
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
  Title
D(+)-glyceric aciduria: etiology and clinical consequences.
  Journal
Pediatr Res 28:38-41 (1990)
DOI:10.1203/00006450-199007000-00009
Reference
  Authors
Sass JO, Fischer K, Wang R, Christensen E, Scholl-Burgi S, Chang R, Kapelari K, Walter M
  Title
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
  Journal
Hum Mutat 31:1280-5 (2010)
DOI:10.1002/humu.21375
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