By : Hassan. I. Elsayyad1, Hany .A .Hefny2 Mahmoud .E. Mohallal3and Hala . M. Ebied3

Abstract

Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known about the mechanisms involved in the pathology of PKU during neonatal brain development. Elevated concentrations of plasma phenylalanine were induced in pregnant rats by oral administration of 50 mg/100 g body weight alpha-methylphenylalanine (to inhibit maternal liver phenylalanine hydroxylase) plus phenylalanine supplementation) at a dosage of 60 mg/100 g body weight two times daily (to increase maternal and fetal plasma phenylalanine) after 6th day of onset of gestation till 14 & 16 days of gestation as well as at parturition. Treatment with alpha-methylphenylalanine/phenylalanine resulted in significant decrease of accumulated body weight gain during pregnancy as well as exhibited marked growth retardation of prenatal feti and delivered newborn. Histological examination of maternal tissues including liver, heart, kidney & thyroid gland revealed varieties of histopathological abnormalities which illustrated and discussed. These results suggested that exposure of the fetus to high plasma concentrations of phenylalanine caused a delay in the biochemical maturation

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2. Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young's during perinatal life.

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