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Deficiency of reductase

MedGen UID:
713626
•Concept ID:
C1291316
•
Disease or Syndrome
Synonym: Reductase Deficiency
SNOMED CT: Deficiency of reductase (124236005)

Definition

A deficiency in an enzyme that promotes reduction of an organic compound. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of reductase

Professional guidelines

PubMed

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.
Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C
J Inherit Metab Dis 2017 Jan;40(1):21-48. Epub 2016 Nov 30 doi: 10.1007/s10545-016-9991-4. PMID: 27905001Free PMC Article

Recent clinical studies

Etiology

Inhibition of DHCR24 activates LXRα to ameliorate hepatic steatosis and inflammation.
Zhou E, Ge X, Nakashima H, Li R, van der Zande HJP, Liu C, Li Z, Müller C, Bracher F, Mohammed Y, de Boer JF, Kuipers F, Guigas B, Glass CK, Rensen PCN, Giera M, Wang Y
EMBO Mol Med 2023 Aug 7;15(8):e16845. Epub 2023 Jun 26 doi: 10.15252/emmm.202216845. PMID: 37357756Free PMC Article
Mitochondrial ubiquinol oxidation is necessary for tumour growth.
Martínez-Reyes I, Cardona LR, Kong H, Vasan K, McElroy GS, Werner M, Kihshen H, Reczek CR, Weinberg SE, Gao P, Steinert EM, Piseaux R, Budinger GRS, Chandel NS
Nature 2020 Sep;585(7824):288-292. Epub 2020 Jul 8 doi: 10.1038/s41586-020-2475-6. PMID: 32641834Free PMC Article
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Homocysteine metabolism.
Selhub J
Annu Rev Nutr 1999;19:217-46. doi: 10.1146/annurev.nutr.19.1.217. PMID: 10448523
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA
J Inherit Metab Dis 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. PMID: 2824920

Diagnosis

Methylene Tetrahydrofolate Reductase Deficiency.
Kaur R, Correa ARE, Thakur S, Kabra M, Gupta N
Indian J Pediatr 2020 Nov;87(11):951-953. Epub 2020 May 26 doi: 10.1007/s12098-020-03290-3. PMID: 32451826
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR
Hum Mutat 2015 Jun;36(6):611-21. Epub 2015 Apr 27 doi: 10.1002/humu.22779. PMID: 25736335
Monoamine neurotransmitter deficiencies.
Pearl PL
Handb Clin Neurol 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. PMID: 23622404
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979
Homocystinuria.
Przyrembel H
Ergeb Inn Med Kinderheilkd 1982;49:77-135. doi: 10.1007/978-3-642-68543-9_2. PMID: 7049692

Therapy

Inhibition of DHCR24 activates LXRα to ameliorate hepatic steatosis and inflammation.
Zhou E, Ge X, Nakashima H, Li R, van der Zande HJP, Liu C, Li Z, Müller C, Bracher F, Mohammed Y, de Boer JF, Kuipers F, Guigas B, Glass CK, Rensen PCN, Giera M, Wang Y
EMBO Mol Med 2023 Aug 7;15(8):e16845. Epub 2023 Jun 26 doi: 10.15252/emmm.202216845. PMID: 37357756Free PMC Article
Metformin and Aging: A Review.
Glossmann HH, Lutz OMD
Gerontology 2019;65(6):581-590. Epub 2019 Sep 13 doi: 10.1159/000502257. PMID: 31522175
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Selenium.
Alexander J
Novartis Found Symp 2007;282:143-9; discussion 149-53, 212-8. PMID: 17913229
Hyperhomocysteinaemia.
Perry DJ
Baillieres Best Pract Res Clin Haematol 1999 Sep;12(3):451-77. doi: 10.1053/beha.1999.0036. PMID: 10856981

Prognosis

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L
Mol Genet Genomic Med 2023 Jun;11(6):e2152. Epub 2023 Feb 14 doi: 10.1002/mgg3.2152. PMID: 36787440Free PMC Article
Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
Himmelreich N, Blau N, Thöny B
Mol Genet Metab 2021 Jun;133(2):123-136. Epub 2021 Apr 19 doi: 10.1016/j.ymgme.2021.04.003. PMID: 33903016
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P
J Inherit Metab Dis 2018 Jan;41(1):101-108. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0089-4. PMID: 28980090
Nickel--an essential element.
Anke M, Groppel B, Kronemann H, Grün M
IARC Sci Publ 1984;(53):339-65. PMID: 6398286

Clinical prediction guides

Inhibition of DHCR24 activates LXRα to ameliorate hepatic steatosis and inflammation.
Zhou E, Ge X, Nakashima H, Li R, van der Zande HJP, Liu C, Li Z, Müller C, Bracher F, Mohammed Y, de Boer JF, Kuipers F, Guigas B, Glass CK, Rensen PCN, Giera M, Wang Y
EMBO Mol Med 2023 Aug 7;15(8):e16845. Epub 2023 Jun 26 doi: 10.15252/emmm.202216845. PMID: 37357756Free PMC Article
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP
Am J Hum Genet 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. PMID: 34214447Free PMC Article
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ, Yi F, Dayuha R, Duong P, Horslen S, Camarata M, Coskun AK, Houwen RHJ, Pop TL, Zoller H, Yoo HW, Jung SW, Weiss KH, Schilsky ML, Ferenci P, Hahn SH
Gastroenterology 2021 Jun;160(7):2367-2382.e1. Epub 2021 Feb 25 doi: 10.1053/j.gastro.2021.02.052. PMID: 33640437Free PMC Article
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P
J Inherit Metab Dis 2018 Jan;41(1):101-108. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0089-4. PMID: 28980090
Tumour-specific proline vulnerability uncovered by differential ribosome codon reading.
Loayza-Puch F, Rooijers K, Buil LC, Zijlstra J, Oude Vrielink JF, Lopes R, Ugalde AP, van Breugel P, Hofland I, Wesseling J, van Tellingen O, Bex A, Agami R
Nature 2016 Feb 25;530(7591):490-4. Epub 2016 Feb 15 doi: 10.1038/nature16982. PMID: 26878238

Recent systematic reviews

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis.
Mbanefo EC, Ahmed AM, Titouna A, Elmaraezy A, Trang NT, Phuoc Long N, Hoang Anh N, Diem Nghi T, The Hung B, Van Hieu M, Ky Anh N, Huy NT, Hirayama K
Sci Rep 2017 Apr 6;7:45963. doi: 10.1038/srep45963. PMID: 28382932Free PMC Article
Thyroid disorders in polycystic ovary syndrome.
Kowalczyk K, Franik G, Kowalczyk D, Pluta D, Blukacz Ł, Madej P
Eur Rev Med Pharmacol Sci 2017 Jan;21(2):346-360. PMID: 28165551

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