U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial DNA maintenance syndrome

MedGen UID:
1826064
•Concept ID:
C5679930
•
Disease or Syndrome
Synonyms: inborn error of mitochondrial genome maintenance; inborn mitochondrial genome maintenance disorder; mitochondrial DNA maintenance syndrome; mtDNA maintenance syndrome; rare inborn error of mitochondrial genome maintenance
 
Monarch Initiative: MONDO:0018121
Orphanet: ORPHA352456

Definition

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial DNA maintenance syndrome

Professional guidelines

PubMed

232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 - 18 June 2017, Heemskerk, The Netherlands.
López-Gómez C, Cámara Y, Hirano M, Martí R; 232nd ENMC Workshop Participants
Neuromuscul Disord 2022 Jul;32(7):609-620. Epub 2022 May 14 doi: 10.1016/j.nmd.2022.05.008. PMID: 35641351

Recent clinical studies

Diagnosis

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ
Mol Genet Metab 2018 Jun;124(2):124-130. Epub 2018 Apr 28 doi: 10.1016/j.ymgme.2018.04.012. PMID: 29735374

Prognosis

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ
Mol Genet Metab 2018 Jun;124(2):124-130. Epub 2018 Apr 28 doi: 10.1016/j.ymgme.2018.04.012. PMID: 29735374

Supplemental Content

Table of contents

    Clinical resources

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

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...