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Scholars Journal of Medical Case Reports | Volume-11 | Issue-10
Phenylketonuria at HMIMV Rabat: About 15 Cases
A. Tbatou, R. Abilkassem, A. Laaraj, M. Kmari, A. Ourrai, A. Hassani, A. Agadr
Published: Oct. 27, 2023 | 30 37
DOI: 10.36347/sjmcr.2023.v11i10.041
Pages: 1882-1884
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Abstract
Phenylketonuria is a disorder of amino acid metabolism causing an intellectually handicapping disease with cognitive and behavioral disorders, caused by elevated serum levels of phenylalanine. The primary cause is phenylalanine hydroxylase deficiency. Diagnosis is based on the detection of elevated phenylalanine and normal or low tyrosine levels. Treatment is lifelong dietary restriction of phenylalanine. The prognosis is excellent under treatment.