A sibship with hypervalinemia.
During routine screening of amino-acid disorders, we detected hypervalinemia in two sibs (a girl of 4 and a boy of 3 years of age) of a consanguineous marriage. There was no excess accumulation or excretion of leucine or isoleucine, which presumably indicates the absence of valine transaminase.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010375:Pedigree; D014633:Valine / Q000378:metabolism*
D014633:Valine