Intermittently progressive dyskinetic syndrome in glutaric aciduria.
A case of glutaric aciduria, a recently discovered inborn error of tryptophan-lysine metabolism, is reported. Development was normal during the first year of life. Signs of dyskinesia and dystonia associated with developmental regression occurred twice during gastrointestinal disease. By two years of age, a dystonic syndrome with a severe motor and language disability had resulted.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000652:urine; D000818:Animals; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007806:Language Disorders / Q000209:etiology; D008239:Lysine / Q000652:urine; D009069:Movement Disorders / Q000209:etiology* / Q000652:urine; D011817:Rabbits; D014364:Tryptophan / Q000652:urine
D005977:Glutarates; D014364:Tryptophan; D008239:Lysine