title: [Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].
abstract: The influence of inborn errors of metabolism on the amino acid content, the structure and growth of human hair has been studied in patients suffering from Phenylketonuria, Cystinosis, Homocystinuria and Tyrosinosis. Examiniation of hairs under the scanning electron microscope reveals defects and abnormalities such as a plicated pattern of the cuticula in patients with Phenylketonuria and Cystinosis. The amino acid content of the hydrolized hair keratin of all patients was within normal range and did not reveal significant changes of phenylalanine, cystine, homocystine, methionine or tyrosine. Disturbance in hair growth was determined by evaluation of standardized hair root samples. The results indicate an increase in hair root atrophy with increasing severity of the disorder of amino acid metabolism.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology; D000596:Amino Acids / Q000032:analysis; D003553:Cystine / Q000378:metabolism; D006197:Hair / Q000032:analysis / Q000378:metabolism / Q000648:ultrastructure; D006712:Homocystinuria; D006801:Humans; D007633:Keratins / Q000032:analysis; D010661:Phenylketonurias; D014443:Tyrosine / Q000378:metabolism
chemical_list: D000596:Amino Acids; D014443:Tyrosine; D003553:Cystine; D007633:Keratins
vernacular_title: Morphologische und biochemische Untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel