Argininosuccinic aciduria: Metabolic studies and effects of treatment with keto-analogues of essential amino acids

✍ Scribed by H. Böhles; H. Heid; D. Harms; D. Schmid; W. Fekl

• Book ID: 104777198
• Publisher: Springer
• Year: 1978
• Tongue: English
• Weight: 456 KB
• Volume: 128
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00445607

✦ Synopsis

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.