Maple syrup urine disease variant form: presentation with psychomotor retardation and CT scan abnormalities.
A female infant with an intermediate variant of maple syrup urine disease is described. The patient had psychomotor retardation and high plasma levels of branched chain aminoacids. Leucine decarboxylation rate in leukocytes was diminished. Cranial computed tomography showed decreased density in the cerebral white matter. After starting dietary treatment the infant resumed her psychomotor development and the abnormal images previously seen on computed tomography disappeared.
D000597:Amino Acids, Branched-Chain / Q000097:blood; D001921:Brain / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D007651:Keto Acids / Q000097:blood; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000000981:diagnostic imaging*; D011596:Psychomotor Disorders / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
D000597:Amino Acids, Branched-Chain; D007651:Keto Acids