Abstract
A Hindu family of nonconsanguineous parentage having four out of six sibs affected with phenylketonuria has been described. All the four had fair color, brown eyes and hairs and mental retardation. Three of them had seizures. In two epileptiform electroencephalogram was seen. All the four had positive biochemical tests for phenylketonuria in urine.
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Gaind, B.N., Maheshwari, M.C., Kishan, J. et al. A family of Phenylketonuria. Indian J Pediatr 49, 631–633 (1982). https://doi.org/10.1007/BF02834572
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DOI: https://doi.org/10.1007/BF02834572