Details of Disease

General Information of Disease (ID: DISRRUYP)

• Disease Name: Branched-chain keto acid dehydrogenase kinase deficiency
• Synonyms: branched-chain KETO acid dehydrogenase KINASE deficiency; Bckdk deficiency; branched-chain keto acid dehydrogenase kinase deficiency; BCKDK deficiency; BCKDKD; autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
• Definition: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISOGOR1: Inborn disorder of branched-chain amino acid metabolism
  DISRRUYP: Branched-chain keto acid dehydrogenase kinase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013970
  UMLS CUI: C3554078
  OMIM ID: 614923
  MedGen ID: 766992
  Orphanet ID: 308410

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCKDK	TT7WD2Q	Definitive	Autosomal recessive	[1]
BCKDK	TT7WD2Q	Definitive	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCKDK	OTDLYLRZ	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.Biochim Biophys Acta. 2016 Apr;1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22.