branched
/bræntʃt/
-
-
chain
/ʧeɪn/
keto
/ˈkeɪtoʊ/
acid
/ˈæsəd/
dehydrogenase
/ˌdihaɪˈdrɑʤəˌneɪz/
kinase
/ˈkaɪneɪs/
deficiency
/dəˈfɪʃənsi/
Description
branched-chain keto acid dehydrogenase kinase deficiency
autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11
English Phonetic Transcription
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