The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran.
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Date
2013-10
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Abstract
BACKGROUND: Defects either in phenylalanine
hydroxylase (PheOH) or in the production and recycling
of its cofactor (tetrahydrobiopterin [BH4]) are the causes
of primary hyperphenylalaninemia (HPA). The aim of our
study was to investigate the current status of different
variants of HPA Kurdish patients in Kermanshah province,
Iran.
MATERIALS AND METHODS: From 33 cases enrolled in
our study, 32 were identified as HPA patients. Reassessing
of pre‑treatment phenylalanine concentrations and the
analysis of urinary pterins was done by high‑performance
liquid chromatography method.
RESULTS: A total of 30 patients showed PAH deficiency
and two patients were diagnosed with BH4 deficiency (BH4/
HPA ratio = 6.25%). Both of these two BH4‑deficient
patients were assigned to severe variant of dihydropteridine
reductase (DHPR) deficiency. More than 75% of patients with
PAH deficiency classified as classic phenylketonuria (PKU)
according their levels of pre‑treatment phenylalanine
concentrations.
CONCLUSION: Based on the performed study, we think
that the frequency of milder forms of PKU is higher than
those was estimated before and/or our findings here.
Furthermore, the frequency of DHPR deficiency seems
to be relatively high in our province. Since the clinical
symptoms of DHPR deficiency are confusingly similar to
that of classic PKU and its prognosis are much worse than
classical PKU and cannot be solely treated with the PKU
regime, our pilot study support that it is crucial to set up
screening for BH4 deficiency, along with PAH deficiency, among all HPA patients diagnosed with HPA.
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Keywords
Dihydropteridine reductase deficiency, hyperphenylalaninemia, Iran, PAH deficiency, tetrahydrobiopterin deficiency
Citation
Moradi Keyvan, Alibakhshi Reza, Khatami Shohreh. The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 454-458.