Hypervalinaemia and Hyperleucine-Isoleucinaemia
Autoszomális recesszív
Caused by changes in both copies of BCAT2, which encodes the mitochondrial branched-chain aminotransferase that carries out the first step in breaking down branched-chain amino acids.
Tünetek és jelek
Raised blood levels of valine, leucine and isoleucine, which can be found on newborn screening and differ from the pattern of maple syrup urine disease. Reported features are variable and include developmental delay and autistic features, although it is unclear whether these are part of the condition, and some people have had no symptoms. Only a few people have been described.
Mit változtat a diagnózis
Diagnosis is confirmed by metabolic testing, and care is guided by a metabolic specialist; a protein-restricted diet may help, and early treatment may improve outcome. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
branched-chain aminotransferase deficiency; HVLI; hypervalinemia or hyperleucine-isoleucinemia
