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January 1963

Phenylketonuria in a Child from the Middle East

Author Affiliations

Maria Salam, M.D., Department of Pediatrics, American University of Beirut, Beirut, Lebanon.; From the Department of Pediatrics, American University of Beirut.

Am J Dis Child. 1963;105(1):102-103. doi:10.1001/archpedi.1963.02080040104017

The purpose of this paper is to present a case of phenylketonuria detected during the routine screening of children with mental defects or other neurological abnormalities in the Pediatrie Neurology Clinic of the American University Hospital, Beirut, Lebanon. Although world-wide in distribution, phenylketonuria is believed to be less frequent in the Mediterranean and colored races.1 No case has yet been reported from the Middle East with the exception of a "Jewish family in Iraq." 2

Report of a Case  A 7-year-old Armenian boy was seen in the Pediatrie Neurology Clinic for severe mental retardation, inability to stand and walk, and abnormal movements of both upper extremities. Pregnancy, labor, delivery, and neonatal period were uncomplicated. His birth weight was 2.9 kg. No abnormalities were noted during the first 3 months of life. When the child was 11 months, examination showed severe mental and motor retardation, microcephaly (41 cm.), and extrapyramidal

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