title: Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
abstract: A 16-year-old adolescent with mild hyperphenylalaninaemia was given a high-protein 'body building' supplement twice daily, causing headaches, decreased school performance and mild depression. All symptoms disappeared after cessation of the supplement. The phenylalanine hydroxylase mutation H170D/IVS1nt5G>T was found to be responsive to tetrahydrobiopterin with significant decrease in blood phenylalanine concentration and increase in tyrosine blood content. A brain phenylalanine level of 0.5 mmol/L was initially documented, which decreased to the normal carrier range of 0.2 mmol/L within one month of discontinuance of the protein supplement. At present, the patient is on a normal diet without phenylalanine restriction.
authors.affiliation: Department of Medical Genetics, Children's Hospital of Los Angeles, California 90027, USA.
authors.forename: R
authors.initials: R
authors.lastname: Koch
authors.forename: K D
authors.initials: KD
authors.lastname: Moseley
authors.forename: R
authors.initials: R
authors.lastname: Moats
authors.forename: S
authors.initials: S
authors.lastname: Yano
authors.forename: R
authors.initials: R
authors.lastname: Matalon
authors.forename: F
authors.initials: F
authors.lastname: Guttler
mesh_terms: D000293:Adolescent; D000596:Amino Acids / Q000008:administration & dosage* / Q000009:adverse effects*; D001708:Biopterins / Q000008:administration & dosage / Q000031:analogs & derivatives*; D003863:Depression / Q000139:chemically induced / Q000209:etiology*; D019587:Dietary Supplements; D004305:Dose-Response Relationship, Drug; D006261:Headache / Q000139:chemically induced / Q000209:etiology*; D006801:Humans; D008297:Male; D009154:Mutation; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000150:complications* / Q000235:genetics; D013008:Somatotypes
chemical_list: D000596:Amino Acids; D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin