Features include always present findings: Language impairment, Cataract, Intellectual disability, and Global developmental delay and others; and very common findings: Progressive microcephaly, Clumsiness, Decreased CSF isoleucine concentration, and Decreased CSF leucine concentration and others. 49 total HPO annotations.

BCKDK encodes branched chain keto acid dehydrogenase kinase (412 aa). Serine/threonine-protein kinase component of macronutrients metabolism. Highest expression in Cells Cultured fibroblasts (65.4 TPM) and Cells EBV-transformed lymphocytes (59.3 TPM).

Branched-chain keto acid dehydrogenase kinase deficiency is caused by mutations in the BCKDK gene on chromosome 16.

BCKDK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Genetic testing for BCKDK is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 11 very common features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for branched-chain keto acid dehydrogenase kinase deficiency.

11 publications have been identified in PubMed for branched-chain keto acid dehydrogenase kinase deficiency. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (36%), and Epidemiology / Natural History (9%).