Argininosuccinic aciduria. A developmental and biochemical case study.
An infant with argininosuccinic aciduria was detected through the routine newborn screening program for inborn metabolic diseases and has been followed for over 7 years. Treatment consisting of restricted protein intake and arginine base supplementation was initiated at the age of 8 months and was continued intermittently. She maintained normal psychomotor development to the age of 3 years and currently at the age of 7.3 years, she has measured intelligence in the borderline range. She has had mild symptoms of cerebellar ataxia. Her physical growth has been below normal. Biochemical abnormalities are described. Special metabolic investigations and the effects of treatment are discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000378:metabolism; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D001806:Blood Urea Nitrogen; D002648:Child; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D005500:Follow-Up Studies; D006128:Growth; D006801:Humans
D000596:Amino Acids; D004044:Dietary Proteins; D001125:Argininosuccinic Acid; D000641:Ammonia; D001120:Arginine