ABSTRACT
Severe mental retardation, autism, seizures, hypotonia, microcephaly, cerebral atrophy, very low concentrations of leucine, isoleucine and valine in plasma and cerebrospinal fluid (CSF) and decreased activity of BCKDK.
Severe mental retardation, autism, seizures, hypotonia, microcephaly, cerebral atrophy, very low concentrations of leucine, isoleucine and valine in plasma and cerebrospinal fluid (CSF) and decreased activity of BCKDK.