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Danger of high‐protein dietary supplements to persons with hyperphenylalaninaemia
Author(s) -
Koch R.,
Moseley K. D.,
Moats R.,
Yano S.,
Matalon R.,
Guttler F.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1025103018278
Subject(s) - phenylalanine , hyperphenylalaninemia , tetrahydrobiopterin , tyrosine , medicine , headaches , biopterin , endocrinology , phenylalanine hydroxylase , depression (economics) , phenylketonurias , chemistry , biochemistry , amino acid , psychiatry , nitric oxide synthase , nitric oxide , economics , macroeconomics
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.