Data di Pubblicazione:
2011
Citazione:
Adjusting diet with sapropterin in phenylketonuria : what factors should be considered? / A. MacDonald, K. Ahring, K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, K. Motzfeldt, M. Robert, J.C. Rocha, M. van Rijn, A. Bélanger-Quintana. - In: BRITISH JOURNAL OF NUTRITION. - ISSN 0007-1145. - 106:2(2011 Jul), pp. 175-182.
Abstract:
The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence
(and hence metabolic control) is commonly poor. Patients with PKU (usually, but not exclusively, with a relatively mild form of the
disorder) who are responsive to treatment with pharmacological doses of tetrahydrobiopterin (BH4) have either lower concentrations of
blood phenylalanine or improved dietary phenylalanine tolerance. The availability of a registered formulation of BH4 (sapropterin dihydrochloride,
Kuvanw) has raised many practical issues and new questions in the dietary management of these patients. Initially, patients
and carers must understand clearly the likely benefits (and limitations) of sapropterin therapy. A minority of patients who respond to
sapropterin are able to discontinue the phenylalanine-restricted diet completely, while others are able to relax the diet to some extent.
Care is required when altering the phenylalanine-restricted diet, as this may have unintended nutritional consequences and must be undertaken
with caution. New clinical protocols are required for managing any dietary change while maintaining control of blood phenylalanine,
ensuring adequate nutrition and preventing nutritional deficiencies, overweight or obesity. An accurate initial evaluation of pre-sapropterin
phenylalanine tolerance is essential, and the desired outcome from treatment with sapropterin (e.g. reduction in blood phenylalanine or
relaxation in diet) must also be understood by the patient and carers from the outset. Continuing education and support will be required
thereafter, with further adjustment of diet and sapropterin dosage as a young patient grows.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Inherited metabolic disorders; Nutrition; Phenylalanine; Phenylketonuria; Sapropterin
Elenco autori:
A. MacDonald, K. Ahring, K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, K. Motzfeldt, M. Robert, J.C. Rocha, M. van Rijn, A. Bélanger-Quintana
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