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Journals / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 1

Recessive congenital methemoglobinemia in immediate generations

Deniz ASLAN
Gülsan TÜRKÖZ-SUCAK
Melanie Joan PERCY
Pages
113–115
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:We report herein on our observation of recessive congenital methemoglobinemia(type I), an autosomal recessive disorder, in immediate generations (in amother and her daughter).
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Key Findings & Data:Molecular analysis revealed a mechanism ofinheritance not reported previously, despite the high probability of occurrencein autosomal recessive disorders.
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Conclusion & Impact:This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

We report herein on our observation of recessive congenital methemoglobinemia(type I), an autosomal recessive disorder, in immediate generations (in amother and her daughter). Molecular analysis revealed a mechanism ofinheritance not reported previously, despite the high probability of occurrencein autosomal recessive disorders. This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.

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Cite This Article

ASLAN, D., TÜRKÖZ-SUCAK, G., PERCY, M. J. (2022). Recessive congenital methemoglobinemia in immediate generations. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 1, 113–115. https://ajindex.com/articles/613175

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References (8)

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