By : Hassan.I.Elsayyad1, Mahmoud. E. .Mohallal2, Hany .A .Hefny3, Hala . M. Ebied4

Abstract

Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine to tyrosine. The present work studied the Effect of experimental phenylketonuria on the development of skin of prenatel and newborn fetuses.The disease was induced in pregnant rats by daily intragastric administration of 30 mg. DL-a-methylphenylalanine/kg body weight plus 60 mg/kg body weight at 12 h intervals throughout pregnancy till 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 fetuses and delivered newborn. The growth retarded fetuses was manifested by decreased body weight, malformed both fore -& hind limb, oedematous skin & superficial hematomas widely spreads in different parts of the body. Vibrissae skin hair were characterized by curved free ends as well as reduction of their size and length. Cornification was retarded . The epidermis attained a considerable thinning with delayed differentiation of epidermal cell layers.The growing hair follicles lacked normal characteristic appearance. These results suggested that exposure of the fetus to high plasma concentrations of phenylalanine caused a delay in the biochemical maturation of the fetal rat.

1. Effect of experimental phenylketonuria on the development of skin of prenatel and newborn fetuses.

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