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Three Novel Mutations in CYB5R3 Gene Causing NADH-cytochrome b5 Reductase Enzyme Deficiency Leads to Recessive Congenital Methaemoglobinemia

2021-08-04

Abstract excerpt

<title>Abstract</title> <p>Two types of recessive congenital methaemoglobinemia (RCM) is caused by NADH-dependent cytochrome b5 reductase enzyme deficiency encoded by <italic>CYB5R3 </italic>gene. RCM-I is characterized by higher methaemoglobin levels (>2 g/dL), causing only cyanosis, whereas RCMR-II is associated with cyanosis with neurological impairment. The present study discovered three novel homozygous path...

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Literature Corpus work: 837da327-8289-5c77-bf87-60a148192025
DOI: 10.21203/rs.3.rs-732442/v1

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