KEGG   DISEASE: Branched-chain ketoacid dehydrogenase kinase deficiency
Entry
H02136                      Disease                                
Name
Branched-chain ketoacid dehydrogenase kinase deficiency;
BCKDK deficiency
Description
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low plasma levels of branched-chain amino acids.
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
     H02136  Branched-chain ketoacid dehydrogenase kinase deficiency
Gene
BCKDK [HSA:10295] [KO:K00905]
Other DBs
ICD-11: 5C50.DY
ICD-10: E71.1
OMIM: 614923
Reference
PMID:24449431
  Authors
Garcia-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejon E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacin M, Rodriguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjos M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agullo SB
  Title
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
  Journal
Hum Mutat 35:470-7 (2014)
DOI:10.1002/humu.22513
Reference
PMID:22956686
  Authors
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG
  Title
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
  Journal
Science 338:394-7 (2012)
DOI:10.1126/science.1224631

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  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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