Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.
A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected by an increase of total serum proteins and serum albumin by about 1 g/dl during the first 5 months of treatment. There was a striking improvement in the patient's seizure disorder following institution of the keto-analogue therapy.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood; D000601:Amino Acids, Essential / Q000627:therapeutic use; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D056807:Argininosuccinic Aciduria; D001798:Blood Proteins / Q000032:analysis; D005260:Female; D006801:Humans; D012640:Seizures / Q000209:etiology; D012709:Serum Albumin / Q000032:analysis
D000596:Amino Acids; D000601:Amino Acids, Essential; D001798:Blood Proteins; D012709:Serum Albumin; D001125:Argininosuccinic Acid; D000641:Ammonia; D001120:Arginine