Hulya Gokmen-Ozel

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In phenylketonuria (PKU), it is common for blood phenylalanine (Phe) concentrations to be outside optimal target ranges, particularly in teenagers and adults, indicating inadequate compliance. It is well known that significant noncompliance exists, and the situation in PKU would appear no different than other chronic conditions. In PKU, compliance is(More)
BACKGROUND In phenylketonuria (PKU), protein substitute is an essential part of dietary treatment. Short-term studies have demonstrated that liquid protein substitutes (LPS) are efficacious, and improve compliance in teenagers and adults with PKU, although there are no data available to demonstrate that their effectiveness is sustained over time. The(More)
BACKGROUND Only limited data are available on the blood phenylalanine (Phe) concentrations achieved in European patients with phenylketonuria (PKU) on a low-Phe diet. OBJECTIVE A survey was conducted to compare blood Phe control achieved in diet-treated patients with PKU of different age groups in 10 European centres. METHODS Centres experienced in the(More)
BACKGROUND In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to prevent encephalopathic crisis (EC). In the present study, dietary practices were examined in a single UK centre without access to newborn screening. METHODS Twenty GA1 patients (11 males, median age: 10.2 years, range 2.2-24.1 years) were(More)
BACKGROUND There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method,(More)
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(More)
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to minimise the potentially disabling neuropsychological sequelae of the disorder. Research in this area has unsurprisingly focussed largely on managing blood Phe concentrations to protect the brain. Protein requirements in dietary management of PKU are met mostly(More)
BACKGROUND Tyrosinaemia type 1 (HT1) is treated with a tyrosine and phenylalanine-restricted diet, amino acids free of phenylalanine and tyrosine, and nitisinone (NTBC). Treatment guidelines recommend plasma tyrosine between 200-400 μm and phenylalanine at least >30 μm. There is little information on the diurnal variation of plasma tyrosine or phenylalanine(More)
BACKGROUND AND AIMS To gather exploratory data on the costs and reimbursement of special dietary foods used in the management of phenylketonuria (PKU) from ten international specialist PKU centers. METHODS Experts from each center provided data on retail costs of the three most frequently used phenylalanine-free protein substitutes and low-protein foods(More)
OBJECTIVE Glucose polymer-based emergency feeds (EF), used during illness to prevent metabolic decompensation and encephalopathy in inherited metabolic disorders, should be produced accurately and safely. DESIGN In a randomised, prospective, controlled study, the aim was to investigate if when preparing age-appropriate EF, a pre-measured sachet of glucose(More)