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Year : 2020  |  Volume : 33  |  Issue : 1  |  Page : 1-5

Significance of tetrahydrobiopterin in management of hyperphenylalaninemia

1 Children Welfare Teaching Hospital, Department of Neurology, Al-Mustansiriyah University, Baghdad, Iraq
2 National Diabetes Center, Al-Mustansiriyah University, Baghdad, Iraq
3 Children Welfare Teaching Hospital, Department of Neurology, Baghdad Medical City Teaching Complex, Baghdad, Iraq

Correspondence Address:
Tawfeeq Fakhir R Al-Auqbi
National Diabetes Center, Al-Mustansiriyah University, Baghdad
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IRJCM.IRJCM_4_20

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Background: The Sapropterin dihydrochloride enzyme cofactor, a synthetic analog form of 6R-BH4, was offered as an oral treatment for hyperphenylalaninemia. The sapropterin dihydrochloride role in patients with phenylketonuria (PKU) is to activate the endogenous phenylalanine hydroxylase (PAH) and to restore partially the oxidative metabolism of phenylalanine (Phe), when patients have insufficiency or lack of tetrahydrobiopterin. The sapropterin dihydrochloride anticipated to restore PAH activity through providing an exogenous source of the lost or deficient cofactor. Aim of Study: This study aims to evaluate the effects and clinical significance of tetrahydrobiopterin supplementation in hyperphenylalaninemia. Patients and Methods: This study describes the use of tetrahydrobiopterin in 58 patients with hyperphenylalaninemia treated before the age of 15 years with the use of tetrahydrobiopterin loading test. More than 30% decrement in Phe consider positive. Results: Fifty-eight patient been enrolled in this prospective study as follows; seven patient non PKU hyperphenylalaninemia (Phe level <600 μM), 13 patients mild to moderate PKU (Phe level between 600 and 1200 μM) and 38 with classic PKU (Phe level equal or above 1200 μM). The mean of Phe at the diagnosis was 377.00 ± 150.240 μM, 843.00 ± 133.899 μM and 1513.736 ± 274.372 μM sequentially. The response to treatment with tetrahydrobiopterin was inversely related to the level of Phe where its 100% in non PKU hyperphenylalaninemia, 70% in mild-to-moderate PKU and 16% in classic PKU. Tetrahydrobiopterin therapy significantly enhanced dietary Phe tolerance and permitted a Phe-free medical formula to be discontinued in a significant number of patients in whom phenylalaninemia within therapeutic target (120–300 μM) were achieved. Tetrahydrobiopterin displays the safety and usefulness of this treatment for patients mild PKU. Conclusions: Tetrahydrobiopterin therapy should be tried in all patients with hyperphenylalaninemia and/or PKU as it may significantly decrease the Phe level and improvement his milestone moreover safe in mild PKU.

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