ENSIKLOPEDIA Cari Tekan Enter untuk memulai pencarian cepat. Kembali ke Ensiklopedia Arsip Wikipedia Indonesia Cytochrome b5 deficiency Cytochrome b5 deficiencyMedical conditionCytochrome b5 deficiencySpecialtyEndocrinology 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.[1][2][3] The condition affects both adrenal and gonadal androgen biosynthesis and results in male pseudohermaphroditism.[1] 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).[1] References 1 2 3 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 vteGonadal disorderOvarian Polyendocrine metabolic ovarian syndrome Premature ovarian failure Hyperthecosis TesticularEnzymatic 5α-reductase 2 deficiency 17β-Hydroxysteroid dehydrogenase deficiency Aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Mild androgen insensitivity syndrome Partial androgen insensitivity syndrome Complete androgen insensitivity syndrome Familial male-limited precocious puberty Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Estrogen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism vteInborn errors of steroid metabolismMevalonatepathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi–Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis SteroidsCorticosteroid(including CAH) aldosterone: Glucocorticoid remediable aldosteronism cortisol/cortisone: CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroidTo androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome vteAdrenal gland disorderHyperfunctionAldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH HypofunctionAldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by adding missing information.vte
