Cytochrome b5 deficiency
In today's world, Cytochrome b5 deficiency is a topic that has captured the attention of millions of people around the world. With its multiple facets and implications, Cytochrome b5 deficiency has become a key point of discussion in various fields, from politics to science, culture and society in general. Throughout history, Cytochrome b5 deficiency has played a crucial role in the evolution of humanity, marking important milestones and generating significant changes in the way we see and understand the world around us. In this article, we will explore the different dimensions of Cytochrome b5 deficiency and analyze its impact on our current reality.
| Cytochrome b5 deficiency | |
|---|---|
| Specialty | Endocrinology |
Cytochrome b5 deficiency is a rare condition and form of isolated 17,20-lyase deficiency caused by deficiency in cytochrome b5, a small hemoprotein that acts as an allosteric factor to facilitate the interaction of CYP17A1 (17α-hydroxylase/17,20-lyase) with P450 oxidoreductase (POR), thereby allowing for the 17,20-lyase activity of CYP17A1. The condition affects both adrenal and gonadal androgen biosynthesis and results in male pseudohermaphroditism. The principal biological role of cytochrome b5 is reduction of methemoglobin, so cytochrome b5 deficiency can also result in elevated methemoglobin levels and/or methemoglobinemia, similarly to deficiency of cytochrome b5 reductase (methemoglobin reductase).
References
- ^ a b c Mark A. Sperling (10 April 2014). Pediatric Endocrinology E-Book. Elsevier Health Sciences. pp. 498–. ISBN 978-1-4557-5973-6.
- ^ Mansouri A, Lurie AA (January 1993). "Concise review: methemoglobinemia". Am. J. Hematol. 42 (1): 7–12. doi:10.1002/ajh.2830420104. PMID 8416301. S2CID 221426714.
- ^ "Congenital methemoglobinemia with cytochrome b5 deficiency". N. Engl. J. Med. 315 (14): 893–4. October 1986. doi:10.1056/NEJM198610023151415. PMID 3748110.
External links
- Online Mendelian Inheritance in Man (OMIM): 250790 – Methemoglobinemia due to deficiency of cytochrome b5
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