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Deficiency of dehydrogenase

MedGen UID:
713621
•Concept ID:
C1291311
•
Disease or Syndrome
SNOMED CT: Deficiency of dehydrogenase (124226002)

Professional guidelines

PubMed

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
Li X, Ding Y, Liu Y, Zhang Y, Song J, Wang Q, Li M, Qin Y, Huang S, Yang Y
Gene 2015 Dec 10;574(1):41-7. Epub 2015 Jul 26 doi: 10.1016/j.gene.2015.07.078. PMID: 26220405

Recent clinical studies

Etiology

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
Oxidative stress inhibits distant metastasis by human melanoma cells.
Piskounova E, Agathocleous M, Murphy MM, Hu Z, Huddlestun SE, Zhao Z, Leitch AM, Johnson TM, DeBerardinis RJ, Morrison SJ
Nature 2015 Nov 12;527(7577):186-91. Epub 2015 Oct 14 doi: 10.1038/nature15726. PMID: 26466563Free PMC Article
Folic acid.
Donnelly JG
Crit Rev Clin Lab Sci 2001 Jun;38(3):183-223. doi: 10.1080/20014091084209. PMID: 11451208
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

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.
Zhang Z, Sun Y, Wang YY, Ma DY, Wang X, Cheng W, Jiang T
Minerva Pediatr (Torino) 2024 Oct;76(5):645-651. Epub 2021 Oct 14 doi: 10.23736/S2724-5276.21.06179-6. PMID: 34647701
Fertility potential in 5α-reductase type 2 deficient males.
Markouli M, Michala L
J Pediatr Urol 2023 Feb;19(1):108-114. Epub 2022 Sep 9 doi: 10.1016/j.jpurol.2022.09.002. PMID: 36153242
Initial assessment of a child with suspected disorder of sex development.
Ahmad A, Ayub F, Saleem I, Ahmad N
J Pak Med Assoc 2019 May;69(5):711-717. PMID: 31105293
Genetics of hypertensive syndrome.
Martinez-Aguayo A, Fardella C
Horm Res 2009;71(5):253-9. Epub 2009 Apr 1 doi: 10.1159/000208798. PMID: 19339789
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

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
Aldehyde dehydrogenase 3a2 protects AML cells from oxidative death and the synthetic lethality of ferroptosis inducers.
Yusuf RZ, Saez B, Sharda A, van Gastel N, Yu VWC, Baryawno N, Scadden EW, Acharya S, Chattophadhyay S, Huang C, Viswanathan V, S'aulis D, Cobert J, Sykes DB, Keibler MA, Das S, Hutchinson JN, Churchill M, Mukherjee S, Lee D, Mercier F, Doench J, Bullinger L, Logan DJ, Schreiber S, Stephanopoulos G, Rizzo WB, Scadden DT
Blood 2020 Sep 10;136(11):1303-1316. doi: 10.1182/blood.2019001808. PMID: 32458004Free PMC Article
ALDH2 and Cardiovascular Disease.
Chen CH, Ferreira JCB, Mochly-Rosen D
Adv Exp Med Biol 2019;1193:53-67. doi: 10.1007/978-981-13-6260-6_3. PMID: 31368097
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
Methanol poisoning.
Becker CE
J Emerg Med 1983;1(1):51-8. doi: 10.1016/0736-4679(83)90009-4. PMID: 6386968

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
Glucose-6-phosphate dehydrogenase deficiency and stroke outcomes.
Ou Z, Chen Y, Li J, Ouyang F, Liu G, Tan S, Huang W, Gong X, Zhang Y, Liang Z, Deng W, Xing S, Zeng J
Neurology 2020 Sep 15;95(11):e1471-e1478. Epub 2020 Jul 10 doi: 10.1212/WNL.0000000000010245. PMID: 32651291
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

Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Karunanidhi A, Basu S, Zhao XJ, D'Annibale O, Van't Land C, Vockley J, Mohsen AW
Mol Genet Metab 2023 Nov;140(3):107689. Epub 2023 Aug 25 doi: 10.1016/j.ymgme.2023.107689. PMID: 37660571Free PMC Article
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
Oxidative stress inhibits distant metastasis by human melanoma cells.
Piskounova E, Agathocleous M, Murphy MM, Hu Z, Huddlestun SE, Zhao Z, Leitch AM, Johnson TM, DeBerardinis RJ, Morrison SJ
Nature 2015 Nov 12;527(7577):186-91. Epub 2015 Oct 14 doi: 10.1038/nature15726. PMID: 26466563Free PMC Article
Copper:caeruloplasmin ratio.
Twomey PJ, Viljoen A, House IM, Reynolds TM, Wierzbicki AS
J Clin Pathol 2007 Apr;60(4):441-2. doi: 10.1136/jcp.2006.041756. PMID: 17405985Free PMC Article

Recent systematic reviews

Glucose-6-phosphate dehydrogenase deficiency and psychotic disorders: A systematic review.
Gandar C, Scott JG, Warren N
World J Biol Psychiatry 2024 Feb;25(2):151-159. Epub 2024 Jan 31 doi: 10.1080/15622975.2023.2290563. PMID: 38044502
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB
Orphanet J Rare Dis 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. PMID: 34217336Free 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

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