A Case Report: Phenylketonuria in a one-year-old child from India
Journal Title: International Archives of Integrated Medicine - Year 2017, Vol 4, Issue 9
Abstract
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.
Authors and Affiliations
Punam Kumari Jha, Nalin Chaudhary, Abhinav P
Keywords
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