Autozomálně recesivní
Caused by loss of function of both copies of BCKDK, an enzyme that normally switches off the breakdown of the branched-chain amino acids leucine, isoleucine and valine. Without it these amino acids are broken down continually, so blood levels are low.
Příznaky a projevy
Developmental delay, intellectual disability and autism are the main features, sometimes with seizures or epilepsy. Low levels of branched-chain amino acids are found in blood tests. Most people develop a small head size over time, and many have impaired gross motor function.
Co se diagnózou změní
Supplementing branched-chain amino acids and increasing dietary protein can raise blood levels, and early treatment has been reported to improve some features. Care is led by a metabolic team alongside developmental and seizure management. Carrier testing of relatives and genetic counselling are available.
Analyzované geny
Známé také jako
autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDKD
