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Treatable neurotransmitter deficiency in mild phenylketonuria

From the Division of Clinical Chemistry and Biochemistry (Drs. Bonafé and Blau), Department of Pediatrics, University Children’s Hospital, Zürich, Switzerland; Departments of Neurological and Psychiatric Sciences (Dr. A.P. Burlina) and Pediatrics (Dr. A.B. Burlina), University of Padua, Italy; and The John F. Kennedy Institute (Drs. Romstad and Güttler), Glostrup, Denmark.

Address correspondence and reprint requests to Dr. Alberto B. Burlina, Via Giustiniani 3, 35128 Padova, Italy; e-mail: burlina{at}child.pedi.unipd.it

The authors describe a case of neurologic involvement in mild hyperphenylalaninemia (HPA), not due to tetrahydrobiopterin (BH₄) deficiency, with low levels of monoamine neurotransmitter metabolites in CSF. The combined BH₄-Phe loading test suggested a BH₄ response, confirmed by clinical improvement after BH₄ 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.