Hair Amino Acids: Normal Values and Results in Metabolic Errors

The study examined hair amino acid composition in 10 control subjects and 25 patients with metabolic inborn errors. Significant abnormalities were found in several cases. In phenylketonuria (7 cases), hair phenylalanine levels were significantly higher, and glutamic acid was decreased. In homocystinuria (5 cases), phenylalanine levels were also increased. Other conditions like argininosuccinuria and cystinosis showed specific amino acid deviations. The findings suggested that detailed examination of hair proteins could provide further insights into metabolic disorders and their associated hair abnormalities.