Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants
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DOI: 10.1002/mgg3.2081
Abstract: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are… read more here.
Keywords: genetic evaluation; causing variants; hyperphenylalaninemia; disease causing ... See more keywords
Guide for diagnosis and treatment of hyperphenylalaninemia
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DOI: 10.1111/ped.14399
Abstract: Sapropterin hydrochloride, a natural coenzyme (6R‐tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin‐responsive hyperphenylalaninemia in 2007… read more here.
Keywords: diagnosis treatment; treatment; treatment hyperphenylalaninemia; guide diagnosis ... See more keywords
Clinical, genetic, and experimental research of hyperphenylalaninemia
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DOI: 10.3389/fgene.2022.1051153
Abstract: Hyperphenylalaninemia (HPA) is the most common amino acid metabolism defect in humans. It is an autosomal-recessive disorder of the phenylalanine (Phe) metabolism, in which high Phe concentrations and low tyrosine (Tyr) concentrations in the blood… read more here.
Keywords: genetic experimental; experimental research; clinical genetic; hyperphenylalaninemia ... See more keywords