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Study on the prevalence of phenylketonuria in Jordan and assessment of follow-up efforts and dietary management of patients with this disease


The objective of this research was to collect data on the prevalence of phenylketonuria in Jordan, to assess the nutritional status and physical growth of a sample of PKU patients in Jordan using anthropometric measurements and evaluation of the adequacy of their diets. Twenty five patients were divided, according to their age, into four groups: 4–6 months age (n = 6), 8–12 months age (n = 5), 2 years old (n = 7) and 4 years old (n = 7). Height, weight, triceps and subscapular skinfold thicknesses were measured. Dietary intake was taken using three-day food records, and blood phenylalanine (Phe) concentration was determined. The results indicated that 48% of the whole sample had poor physical growth; about (66%) of patients in group 1, (40%) of patients in group 2, (28%) of patients in group 3 and (57%) of patients in group 4 were underweight. Significant positive correlations (p < 0.05) were found between protein intake and each of head circumference (r = 0.434) weight (0.420) and height (r = 0.502) of patients. The protein intakes were 77% and 88% of the recommended levels for groups 1 and 2 respectively. Other low dietary intakes included energy (in groups 1 and 4), fat (in groups 1 and 3) and selenium (in group 1). All patients had controlled blood Phe levels except those in group 4 (4 years age) who had a concentration of 358 µmol/L. It is concluded that there is need for counseling the community about the relationship between PKU and consanguineous marriages and for stressing the importance of monitoring the dietary management of PKU patients.