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Summary
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (BCKDKD)
BCKDK DEFICIENCY
614923
OMIM = Online Medalian Inheritance of Men
308410
16p11.2
rare
autosomal recessive
mutation in the BCKDK gene
symptoms
behavior, autism or autistic-like
developmental delay
epilepsy
intellectual disability/intellectual developmental disorder (ID/ IDD)
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
Valine normal-decreasedplasma
Leucine normal-decreasedplasma
L-Isoleucine normal-decreasedplasma
Literature
Akiyama T,et al.SSADH deficiency possibly associated with enzyme activity-reducing SNPsBrain Dev389871-8742016
Jansen EE,et al.Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolismJ Inherit Metab Dis396795-8002016
Johansen SSet a.Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase DeficiencyJIMD Rep002017
Brown GK,et a.Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidatiJ Inherit Metab Dis104167-3751987
Horino A,et al.A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regressionBrain Dev389866-8702016