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Children with Inborn Errors of Phenylalanine Metabolism: Prognosis and Phenylalanine Tolerance
Author(s) -
ALM J.,
BODEGÅRD G.,
LARSSON A.,
NYBERG G.,
ZETTERSTRÖM R.
Publication year - 1986
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1986.tb10261.x
Subject(s) - phenylalanine , medicine , phenylalanine hydroxylase , endocrinology , population , pediatrics , biochemistry , amino acid , biology , environmental health
. Twenty‐three children, who were detected by neonatal PKU screening, were followed for 8‐18 years in one paediatric centre. Dietary treatment was started if the blood phenylalanine level exceeded 0.72 mmolA. All 23 infants were initially given a low phenylalanine diet. The growth and development rates of the children did not differ significantly from those in a reference population, although one child had mild mental retardation and another had a short attention span. Fourteen children were still on a strict phenylalanine‐restricted diet on their last follow‐up (at 8‐18 years of age). In nine children who were initially put on a low phenylalanine diet, it was possible to normalize the diet between 1/2 and 10 years of age, while maintaining the blood phenylalanine levels between 0.25 and 0.72 mmol/1. It seems likely that those of our patients who markedly increased their phenylalanine tolerance during childhood had a regulatory mutation of the phenylalanine hydroxylase system. A continuous reevaluation of each child treated with a low phenylalanine diet reduces the use of unnecessarily restricted diets.