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

Journal: International Archives of Integrated Medicine (IAIM) (Vol.4, No. 9)

Publication Date:

Authors : ; ; ;

Page : 187-190

Keywords : Phenylketonuria; Child; India.;

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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.

Last modified: 2017-09-25 15:41:11