ArticleMolecular genetics and metabolism reports2015
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2026Pooled it
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.Journal of inherited metabolic disease · 2018Article
- Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.Medical journal of the Islamic Republic of Iran · 2018Article
- Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.Experimental and therapeutic medicine · 2017Article
- Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.JIMD reports · 2015Article
- Quality of life in phenylketonuria (PKU) patients residing in Iehran, Islamic republic of Iran.Journal of medicine and life · 2015Article
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Authors and funding
5 authors.
Funding
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Abstract
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 μmol/L), the single dose of 20 mg/kg (Kuvan®) and duration of 24 h was used.
resultsAmong the 4 different categories of mild hyperphenylalaninemia requiring treatment, mild, moderate and classic PKU, the BH4 responders were 90%, 35.7%, 5.6% and 0% respectively after 24 h.
conclusionBH4 responsiveness is more prevalent in mild hyperphenylalaninemia and mild PKU patients in Iran.
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