Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review
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DOI: 10.1016/j.clineuro.2018.06.009
Abstract: Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect… read more here.
Keywords: mimicking linked; linked adrenoleukodystrophy; late diagnosed; case ... See more keywords