Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia
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DOI: 10.1002/humu.23973
Abstract: NADH‐cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. In this Mutation Update, we provide a comprehensive review of all the pathogenic… read more here.
Keywords: update variants; recessive congenital; mutation update; congenital methemoglobinemia ... See more keywords
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I
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DOI: 10.1080/10245332.2018.1444920
Abstract: ABSTRACT Objective: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. Methods: Eight cases of RCM have been addressed to our laboratory in order… read more here.
Keywords: recessive congenital; cyb5r3 gene; congenital methemoglobinemia; mutation ... See more keywords
Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog
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DOI: 10.1111/jvim.15435
Abstract: Little is known about genetic causes of congenital methemoglobinemia in dogs. Here, we report a CYB5R3 mutation in a Pomeranian dog with congenital methemoglobinemia. A 6‐year‐old neutered female Pomeranian dog was investigated for cyanosis noticed… read more here.
Keywords: pomeranian dog; congenital methemoglobinemia; mutation;
Case Report of Remifentanil Labor Analgesia for a Pregnant Patient With Congenital Methemoglobinemia Type 1.
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DOI: 10.1213/xaa.0000000000001373
Abstract: Congenital methemoglobinemia is a rare disease characterized by cyanosis and a left shifting of the oxyhemoglobin dissociation curve. The disease necessitates avoidance of certain medications commonly used in obstetrics, making labor analgesia and anesthesia challenging.… read more here.
Keywords: case report; labor analgesia; congenital methemoglobinemia;