Branched-chain keto acid dehydrogenase kinase deficiency
- Synonyms
- BCKDK DEFICIENCY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (20 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Abnormal circulating branched chain amino acid concentration
Abnormal circulating branched chain amino acid concentration
- MedGen UID: 1684836
- Concept ID: C5139042
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating branched chain amino acid concentration
- Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Autism
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