Epidemiological and clinical study of phenylketonouria (PKU) disease in Khorasan Province; Northeast Iran

phenyl alanin hydroxylase enzyme deficiency induces hyperphenylalaninemia. Without Treatment most of patients suffer from mental retardation. Early diagnosis is a critical implication. High incidence of consanguineous marriage is associated with high incidence of phenylketonouria in the population. Subjects and

All cases of pku who were identified in mashhad university of medical sciences until September 2013 are included in this study. There were 81 patients with pku. Data collected from these patients records.

Incidences of new cases that identified by screening in 2012-2013 were 4 per 69347 live birth, 80% of pku patients had a positive history of consanguineous marriage in their parents. Only 10% of patients identified with screening in the first week of birth. In residual 90%, the most common reason for visiting doctor was retardation of development. The mean age of diagnosis in these patients was 19 months.

Public awareness from PKU screening, specially in infants born in consanguineous marriages is a critical preventive intervention for public health. With timely and proper treatment, most of patients gained from this regimen. Increase of attention of parents and physicians to benefits from infant screening within 3- 5 days of birth and correct follow up are critical public health interventions.