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Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. Gupta V, et al. Hum Mutat. 2020 Apr;41(4):737-748. doi: 10.1002/humu.23973. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31898843
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. ...
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) …
Recessive congenital methemoglobinemia in immediate generations.
Aslan D, Türköz-Sucak G, Percy MJ. Aslan D, et al. Turk J Pediatr. 2016;58(1):113-115. doi: 10.24953/turkjped.2016.01.019. Turk J Pediatr. 2016. PMID: 27922248 Free article.
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). ...
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder …
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS, Gupta V, Warang P, Chiddarwar A, Madkaikar M. Kedar PS, et al. Hematology. 2018 Sep;23(8):567-573. doi: 10.1080/10245332.2018.1444920. Epub 2018 Feb 27. Hematology. 2018. PMID: 29482478 Free article.
OBJECTIVE: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. ...
OBJECTIVE: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify …
A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.
He KY, Yu HP, Zou J, Chen X, Chen L, Ruan DD, Chen T, Chen Q, Zhang L, Gao MZ, Lin XF, Li H, Fang ZT, Wu J, Luo JW, Liao LS. He KY, et al. Clin Chim Acta. 2025 Jan 1;564:119930. doi: 10.1016/j.cca.2024.119930. Epub 2024 Aug 16. Clin Chim Acta. 2025. PMID: 39154701
Recessive congenital methemoglobinemia (RCM) is a hereditary autosomal disorder with an extremely low incidence rate. ...
Recessive congenital methemoglobinemia (RCM) is a hereditary autosomal disorder with an extremely low incidence rate. . …
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening.
Ward J, Motwani J, Baker N, Nash M, Ewer AK, Toldi G. Ward J, et al. Pediatrics. 2019 Mar;143(3):e20182814. doi: 10.1542/peds.2018-2814. Epub 2019 Feb 7. Pediatrics. 2019. PMID: 30733239
Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. Newborn pulse oximetry screening was developed for the early detection of critical congenital heart diseas …
Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 def …
The Acute Treatment of Methemoglobinemia in Pregnancy.
Grauman Neander N, Loner CA, Rotoli JM. Grauman Neander N, et al. J Emerg Med. 2018 May;54(5):685-689. doi: 10.1016/j.jemermed.2018.01.038. Epub 2018 Apr 5. J Emerg Med. 2018. PMID: 29627348
As an outpatient, the patient underwent genetic testing and was diagnosed with homozygous cytochrome b5 reductase deficiency as the etiology of the methemoglobinemia. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?...
As an outpatient, the patient underwent genetic testing and was diagnosed with homozygous cytochrome b5 reductase de …
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Ullah A, Shah AA, Syed F, Mahmood A, Ur Rehman H, Khurshid B, Samad A, Ahmad W, Basit S. Ullah A, et al. Medicina (Kaunas). 2023 Feb 16;59(2):379. doi: 10.3390/medicina59020379. Medicina (Kaunas). 2023. PMID: 36837579 Free PMC article.
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). ...
Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function and consequently …
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
Nicolas-Jilwan M. Nicolas-Jilwan M. Neuroradiol J. 2019 Apr;32(2):143-147. doi: 10.1177/1971400918822153. Epub 2019 Jan 7. Neuroradiol J. 2019. PMID: 30614390 Free PMC article.
Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH-cytochrome b5 reductase deficiency, usually caused by full-stop mutations or deletions. ...The novel missense …
Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH …
CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn.
Molina Herranz D, García Escudero C, Rite Gracia S, Aguilar de la Red Y, Martínez Nieto J, Izquierdo Álvarez S, Montañés Gracia MA, Recasens V, Hernández Mata CF. Molina Herranz D, et al. Clin Biochem. 2022 Apr;102:67-70. doi: 10.1016/j.clinbiochem.2022.01.008. Epub 2022 Jan 31. Clin Biochem. 2022. PMID: 35104462
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p....
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, …