Kristina Motzfeldt

Learn More
We have analysed 236 Norwegian phenylketonuria (PKU) alleles by a combination of mutation scanning methods, restriction enzyme-based assays and DNA sequencing. Thirty-three different mutations constituted 99.6% of all mutant alleles (only 1 allele remains unidentified), 23 of these have been identified also in other European countries. Twenty were predicted(More)
Two groups of children with phenylketonuria (PKU) received protein at two different levels. The protein source was a protein hydrolysate, devoid of phenylalanine, and intact protein from milk, vegetables and fruit. One group (RDA group) was given protein at a level based on the recommendations of the (US) Food and Nutrition Board (1974, 1980). The other(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)
The objective of neonatal screening for phenylketonuria and congenital hypothyroidism is early diagnosis and initiation of treatment to prevent brain damage and mental retardation. We present the results of the Norwegian national neonatal screening programme for phenylketonuria and congenital hypothyroidism. Screening for phenylketonuria based on serum(More)
The problem to evaluate treatment outcome in adult PKU (phenylketonuric) patients lies in the heterogeneity of the adult PKU population. This heterogeneity is not only based on the different treatment history of every individual patient but also on the different severity of the underlying defect of the enzyme phenylalanine hydroxylase. Recent, partly double(More)
Two groups of children with phenylketonuria were followed from birth for several years. The Recommended Dietary Allowance group received a protein intake as recommended by the Food and Nutrition Board. The Food and Agricultural Organization (FAO) group received a protein intake as recommended by FAO. The children were followed very closely for the(More)
BACKGROUND Dietary phenylalanine restriction is the cornerstone of phenylketonuria (PKU) management. However, there are no European consensus guidelines for its optimal dietary care. METHODS Detailed information on the routine dietary management of PKU was obtained from 10 European centres using structured questionnaires. Each centre was represented by(More)
Eighty-three infants with classical phenylketonuria have been born in Norway since 1979. The treatment of these children is centralized at the National Hospital in Oslo. Seventy-four have been breastfed in combination with a phenylalanine-free protein substitute. Dietary treatment was commenced in hospital between 5 and 33 d of age (mean 14 d).(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 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)