Characterization of a Novel Mutation in the NADH-Cytochrome b5 Reductase Gene Responsible for Rare Hereditary Methaemoglobinaemia Type I

Rawa, Katarzyna; Chełmecka-Hanusiewicz, Liliana; Płochocka, Danuta; Pawińska-Wa̧sikowska, Katarzyna; Balwierz, Walentyna; Burzyńska, Beata

doi:10.1159/000347041

Cited by 5 publications

(4 citation statements)

References 9 publications

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“…According to the etiology, methemoglobinemia can be divided into 2 types: hereditary and acquired. Hereditary methemoglobinemia is due to autosomal recessive defects in the cytochrome b5 reductase enzyme or autosomal dominant mutations in the genes that code for globin proteins collectively known as hemoglobin M. 6,7 Drug-induced methemoglobinemia is the most common cause of acquired methemoglobinemia. 8 The most common drugs known to induce methemoglobinemia include TMP/SMX, dapsone, lidocaine, benzocaine, prilocaine, acetaminophen, nitroprusside, phenazopyridine, and zopiclone.…”

Section: Discussionmentioning

confidence: 99%

Methemoglobinemia Induced by Trimethoprim-Sulfamethoxazole in a Boy With Acute Lymphoblastic Leukemia

Liang

2023

Clin Pediatr (Phila)

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Section: Discussionmentioning

confidence: 99%

Methemoglobinemia Induced by Trimethoprim-Sulfamethoxazole in a Boy With Acute Lymphoblastic Leukemia

Liang

2023

Clin Pediatr (Phila)

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“…Sitokrom b5 redüktaz enzim geni 22. Kromozomda saptanmıştır ve son dönemlerde bu enzim dışında prilokain, lidokainin ve fenasetin metabolizmasında yer alan karboksilesteraz (CES)1, CES2 ve arilasetamid deasetilaz gibi bazı enzim eksikliklerinin de methemoglobinemiye neden olabildiği bildirilmiştir (2).…”

Section: Discussionunclassified

Üç günlük yenidoğanda methemoglobinemi; olgu sunumu

Korkmaz¹,

Korkut²,

Baştuğ³

et al. 2017

Bakirkoy

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Methemoglobinemia in a 3 days old new born: case reportLocal anesthesia with prilocaine is a frequent practice in our country to prevent the pain during circumcision. Prilocaine, in turn, has been demonstrated to potentially cause methemoglobinemia in young babies and newborns. Herein we have presented a case of methemoglobinemia in a three-days-old male newborn hospitalized upon the detection of cyanosis and hypoactivity at the physical examination during follow up period immediately after circumcision under anesthesia with prilocaine. At presentation, the patient had no other sign than those of cyanosis and hypoactivity. Blood methemoglobin level was found to be %32.4, and complete recovery was achieved with treatment. Fetal hemoglobin is more susceptible to ferric state, and the systems to help the prevention of methemoglobinemia are insufficient in early periods of life. For these reasons, it has been discussed here that in young children other anesthetic agents than prilocaine should be used. In this case the search related with this subject has also been discussed in the light of literature knowledge and experience.

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“…Bold and Green, mutation identified previously but specifically found in prenatal screening in this study. CYB5R, cytochrome b5 reductase; RCM, recessive congenital methemoglobinemia Kugler et al (2001) c.382T>C p.Ser128Pro II FAD Kobayashi et al (1990) c.431G>A p.Gly144Asp I FAD Kedar, Warang, Nadkarni, Colah, and Ghosh (2008) c.434C>T p.Pro145Leu I Hinge region Dekker et al (2001) c.433C>T p.Pro145Ser I Hinge region Percy, Oren, Savage, and Irken (2004) c.446T>C p.Leu149Pro III FAD Katsube et al (1991) c.464G>A p.Gly155Glu I Hinge region Warang et al (2015a) c.470T>G p.Phe157Cys I Hinge region Lorenzo et al (2011) c.479G>C p.Arg160Pro I Hinge region Warang et al (2015a) c.478C>T p.Arg160X II Hinge region Aalfs et al (2000) c.514G>C p.Val172Leu I NAD Rawa et al (2013)…”

Section: Nicotinamide Ring Is Involved In Hydrophobic Interaction Witmentioning

confidence: 99%

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia

et al. 2020

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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 mutations and their molecular pathology in RCM along with the molecular basis of RCM in 21 new patients from the Indian population, including four novel variants: c.103A>C (p.Thr35Pro), c.190C>G (p.Leu64Val), c.310G>T (p.Gly104Cys), and c.352C>T (p.His118Tyr). In this update, over 78 different variants have been described for RCM globally. Molecular modeling of all the variants reported in CYB5R3 justifies association with the varying severity of the disease. The majority of the mutations associated with the severe form with a neurological disorder (RCM Type 2) were associated with the FAD‐binding domain of the protein while the rest were located in another domain of the protein (RCM Type 1).

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Characterization of a Novel Mutation in the NADH-Cytochrome b5 Reductase Gene Responsible for Rare Hereditary Methaemoglobinaemia Type I

Cited by 5 publications

References 9 publications

Methemoglobinemia Induced by Trimethoprim-Sulfamethoxazole in a Boy With Acute Lymphoblastic Leukemia

Methemoglobinemia Induced by Trimethoprim-Sulfamethoxazole in a Boy With Acute Lymphoblastic Leukemia

Üç günlük yenidoğanda methemoglobinemi; olgu sunumu

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia

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