Letter to the editorPhenylketonuria, an unusual diagnosis of mental retardation in an adult patientLa phénylcétonurie, un diagnostic inhabituel de retard mental chez l’adulte
Section snippets
Discussion
Phenylalanine-hydroxylase (PAH) converts phenylalanine in tyrosine, only in the presence of the cofactor, BH4 [1]. PKU affects 1 in 17,000 births in France [2]. This autosomal recessive genetic disease causes a PAH dysfunction and a toxic accumulation of phenylalanine and a low level of tyrosine in the brain. Blood phenylalanine level was carried out on three brothers. They were free from this genetic disease.
Since 1972, PKU and other PAH deficiencies have almost entirely been diagnosed thanks
Disclosure of interest
The authors declare that they have no conflicts of interest concerning this article.
Acknowledgement
Thank you as well to Laurent Vercueil for support and advice.
References (3)
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Phenylketonuria
Lancet
(2010)
Cited by (3)
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review
2018, Clinical Neurology and NeurosurgeryCitation Excerpt :Generally speaking, PKU is a childhood disorder. However, rare cases of PKU patients are diagnosed in adulthood, which resembles other neurological disorders, have been reported [7–13]. Here, we describe a patient with late-diagnosed PKU mimicking X-linked adrenoleukodystrophy with a heterozygous mutation of the PAH gene, and discuss previously reported cases identified in a literature review.
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