[A patient with persistent hyperlysinemia].
A 3 year old mentally retarded boy with convulsions and a disturbed motor, speech and social development is presented. A persistent hyperlysinaemia, lysinuria and saccharopinuria was found. Treatment with a diet restricted in lysine seems favourable.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000178:diet therapy; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008239:Lysine / Q000097:blood*; D008297:Male; D009122:Muscle Hypertonia / Q000209:etiology
D008239:Lysine
Een patiënt met persisterende hyperlysinemie.