branched-chain keto acid dehydrogenase kinase deficiency

Summary
Synonym
  • BCKDK deficiency
  • BCKDKD
  • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Definition
An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.
Super Class
amino acid metabolic disorder autosomal recessive disease
External Links
Disease Ontology
DOID:0090126
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4594 MMUT methylmalonyl-CoA mutase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P22033 Methylmalonyl-CoA mutase, mitochondrial

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024