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Article

Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.

Medicina (Kaunas, Lithuania) - 16 Feb 2023

Ullah Asmat, Shah Abid Ali, Syed Fibhaa, Mahmood Arif, Ur Rehman Hassan, Khurshid Beenish, Samad Abdus, Ahmad Wasim, Basit Sulman

Abstract excerpt

Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function and consequently lead to recessive congenital methemoglobinemia (RCM). RCM exists as RCM type I (RCM1) and RCM type II (RCM2). RCM1 leads to higher methemoglobin levels causing only cyanosis, while in RCM2, neurological complications are also present along with cyanosis. Materials and...

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PMID: 36837579
DOI: 10.3390/medicina59020379
PMCID: PMC9967277

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