BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (BCKDKD)

Question 1

What is  BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (BCKDKD)?

Accepted Answer

rare
autosomal recessive
mutation in the BCKDK gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Autismus-Epilepsie-Syndrom durch Verzweigtketten-Ketosäuredehydrogenase-Kinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614923

Question 4

Which enzymes are involved?

Accepted Answer

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

Disease	BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (BCKDKD)
Synonym	BCKDK DEFICIENCY
OMIM	614923 OMIM = Online Mendelian Inheritance of Men
Orphanet	308410
Protein (UniProt)	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
Gene locus	16p11.2
ICD	E71.1
Summary	rare autosomal recessive mutation in the BCKDK gene
Laboratory findings	L-Isoleucine normal/dec (plasma) Leucine normal/dec (plasma) Valine normal/dec (plasma)
Symptoms	behavior, autism or autistic-like developmental delay EEG abnormalities [-] epilepsy intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) onset, childhood onset, infancy seizures speech development, delayed, abnormal