U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NADH Dehydrogenase Deficiency

MedGen UID:
476133
Concept ID:
C3274500
Disease or Syndrome

Definition

A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNADH Dehydrogenase Deficiency

Professional guidelines

PubMed

Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A
Prenat Diagn 2001 Jul;21(7):602-4. doi: 10.1002/pd.126. PMID: 11494300
Ruitenbeek W, Wendel U, Hamel BC, Trijbels JM
J Inherit Metab Dis 1996;19(4):581-7. doi: 10.1007/BF01799118. PMID: 8884581
Coleman MD, Coleman NA
Drug Saf 1996 Jun;14(6):394-405. doi: 10.2165/00002018-199614060-00005. PMID: 8828017

Recent clinical studies

Etiology

Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F
Stem Cell Res Ther 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7. PMID: 28646906Free PMC Article
Gielisch I, Meierhofer D
J Proteome Res 2015 Jan 2;14(1):224-35. Epub 2014 Nov 12 doi: 10.1021/pr500894v. PMID: 25361611
Sangiorgi S, Mochi M, Riva R, Cortelli P, Monari L, Pierangeli G, Montagna P
Cephalalgia 1994 Feb;14(1):21-3. doi: 10.1046/j.1468-2982.1994.1401021.x. PMID: 8200018
Bernsen PL, Gabreëls FJ, Ruitenbeek W, Hamburger HL
J Neurol Sci 1993 Sep;118(2):181-7. doi: 10.1016/0022-510x(93)90108-b. PMID: 8229067
Korenke GC, Bentlage HA, Ruitenbeek W, Sengers RC, Sperl W, Trijbels JM, Gabreels FJ, Wijburg FA, Wiedermann V, Hanefeld F
Eur J Pediatr 1990 Dec;150(2):104-8. doi: 10.1007/BF02072049. PMID: 2279503

Diagnosis

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B
Mitochondrion 2016 May;28:73-8. Epub 2016 Apr 11 doi: 10.1016/j.mito.2016.04.001. PMID: 27079373
Wu L, Peng J, Ma Y, He F, Deng X, Wang G, Lifen Y, Yin F
Mitochondrial DNA A DNA Mapp Seq Anal 2016;27(2):1034-7. Epub 2014 Jun 25 doi: 10.3109/19401736.2014.926543. PMID: 24963768
Ono H, Nakamura H, Matsuzaki M
Intern Med 2010;49(19):2039-42. Epub 2010 Oct 1 doi: 10.2169/internalmedicine.49.3710. PMID: 20930427
Kataoka A, Kubota M, Watanabe K, Sawada M, Koishi S, Lin YW, Usami I, Akiyama Y, Kitoh T, Furusho K
Cancer Res 1997 Dec 1;57(23):5243-5. PMID: 9393742
Nagai T, Goto Y, Matsuoka T, Sakuta R, Naito E, Kuroda Y, Nonaka I
Pediatr Neurol 1992 Sep-Oct;8(5):328-32. doi: 10.1016/0887-8994(92)90084-c. PMID: 1329789

Therapy

Roef MJ, de Meer K, Reijngoud DJ, Straver HW, de Barse M, Kalhan SC, Berger R
Am J Clin Nutr 2002 Feb;75(2):237-44. doi: 10.1093/ajcn/75.2.237. PMID: 11815313
Roef MJ, de Meer K, Reijngoud DJ, Straver HW, de Barse M, Kalhan SC, Berger R
Am J Clin Nutr 2002 Feb;75(2):228-36. doi: 10.1093/ajcn/75.2.228. PMID: 11815312
Ahlin A, Elinder G, Palmblad J
Blood 1997 May 1;89(9):3396-401. PMID: 9129047
Bernsen PL, Gabreëls FJ, Ruitenbeek W, Hamburger HL
J Neurol Sci 1993 Sep;118(2):181-7. doi: 10.1016/0022-510x(93)90108-b. PMID: 8229067
Daly JS, Hultquist DE, Rucknagel DL
J Med Genet 1983 Aug;20(4):307-9. doi: 10.1136/jmg.20.4.307. PMID: 6620333Free PMC Article

Prognosis

Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS
Neuropediatrics 2008 Jun;39(3):172-5. Epub 2008 Nov 7 doi: 10.1055/s-0028-1093336. PMID: 18991197
Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P
J Med Genet 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316. PMID: 14729820Free PMC Article
Bentlage HA, Janssen AJ, Chomyn A, Attardi G, Walker JE, Schägger H, Sengers RC, Trijbels FJ
Biochim Biophys Acta 1995 Mar 8;1234(1):63-73. doi: 10.1016/0005-2736(94)00288-z. PMID: 7533543
Tsao CY, Wright FS, Boesel CP, Luquette M
Brain Dev 1994 Sep-Oct;16(5):393-5. doi: 10.1016/0387-7604(94)90127-9. PMID: 7892959
Korenke GC, Bentlage HA, Ruitenbeek W, Sengers RC, Sperl W, Trijbels JM, Gabreels FJ, Wijburg FA, Wiedermann V, Hanefeld F
Eur J Pediatr 1990 Dec;150(2):104-8. doi: 10.1007/BF02072049. PMID: 2279503

Clinical prediction guides

Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY, Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B, Vockley J
Sci Rep 2018 Jan 18;8(1):1165. doi: 10.1038/s41598-018-19543-3. PMID: 29348607Free PMC Article
Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F
Stem Cell Res Ther 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7. PMID: 28646906Free PMC Article
Bentlage HA, Janssen AJ, Chomyn A, Attardi G, Walker JE, Schägger H, Sengers RC, Trijbels FJ
Biochim Biophys Acta 1995 Mar 8;1234(1):63-73. doi: 10.1016/0005-2736(94)00288-z. PMID: 7533543
Sangiorgi S, Mochi M, Riva R, Cortelli P, Monari L, Pierangeli G, Montagna P
Cephalalgia 1994 Feb;14(1):21-3. doi: 10.1046/j.1468-2982.1994.1401021.x. PMID: 8200018
Korenke GC, Bentlage HA, Ruitenbeek W, Sengers RC, Sperl W, Trijbels JM, Gabreels FJ, Wijburg FA, Wiedermann V, Hanefeld F
Eur J Pediatr 1990 Dec;150(2):104-8. doi: 10.1007/BF02072049. PMID: 2279503

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...