A Case Report: Phenylketonuria in a one-year-old child from India

Phenylketonuria is a rare genetic disorder caused by an inborn error in aromatic amino-acid metabolism resulting a lack of mental abilities and developmental changes. Phenylketonuria is an autosomal-recessive inherited metabolic disease in which excessive accumulation of phenylalanine occurs which further leads to neurological impairment. In this paper we report a case of a one-year-old child born with the consanguineous parent with distinct amino acid analysis and radiological findings.