Treatable neurotransmitter deficiency in mild phenylketonuria
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Updated: Oct 4, 2026

Quantitative Autoradiographic Method for Determination of Regional Rates of Cerebral Protein Synthesis In Vivo
Published on: June 28, 2019
L Bonafé1, N Blau, A P Burlina
1Division of Clinical Chemistry, Department of Pediatrics, University Children's Hospital, Zürich, Switzerland.
Abstract:
The authors describe a case of neurologic involvement in mild hyperphenylalaninemia (HPA), not due to tetrahydrobiopterin (BH(4)) deficiency, with low levels of monoamine neurotransmitter metabolites in CSF. The combined BH(4)-Phe loading test suggested a BH(4) response, confirmed by clinical improvement after BH(4) therapy. Molecular study revealed a compound heterozygosity of the phenylalanine hydroxylase alleles: a mild HPA-associated mutation (T380M) and the new mutation D151E. This case demonstrates that even mild HPA, generally considered a benign disorder, may present neurologic impairment.
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