Abnormalities of muscle fibers in maple syrup urine disease.
Muscle fiber abnormalities are described in three cases of neonatal maple syrup disease. There were important variations in fiber diameters. Lesions consisted in focal or diffuse destruction of myofibrils. In view of recent biochemical and clinical data, a direct relation between elevated branched-chain amino acid levels and the muscular abnormalities seems improbable.
D000597:Amino Acids, Branched-Chain / Q000097:blood; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000473:pathology*; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology*; D009210:Myofibrils / Q000648:ultrastructure
D000597:Amino Acids, Branched-Chain