Razi Journal of Medical Sciences

Phenylketonuria (PKU) is a hereditary metabolic disorder which is caused by complete or near complete deficiency of phenylalanin hydroxylase or other cofactors of the phenylalanin metabolic cycle.

In this paper the data are collected from 312 patients who were referred to Shahid Akbarabadi Hospital .

These patients were the result of 215 marriages which were familial in 192 instances.

Most of these families referred to several specialists for diagnosis of the disease find from this point of view their socio-economic status had no effect.

On the contrary, successful diet therapy and follow up Md close relation with socio-economic conditions.

The high cost of special diet and medical care and emotional tension secondary to this disease in these children and their families are the major causes of the failure to control the disease.

Divorce and addiction are the result of emotional tension in such families. Prohibiting familial marriage in those families with positive history is necessary for control and prevention of the disease.