Mitochondrial DNA Depletion Syndromes.

DNA, Mitochondrial / genetics Diagnosis, Differential Gene Deletion Humans Infant, Newborn Mitochondrial Diseases / congenital Neonatal Screening Prognosis Rare Diseases / congenital Syndrome
Depletion External ophthalmoplegia Mitochondria Pseudo-obstruction

Journal

Clinics in perinatology
ISSN: 1557-9840
Titre abrégé: Clin Perinatol
Pays: United States
ID NLM: 7501306

Informations de publication

Date de publication:
03 2020
Historique:
entrez: 1 2 2020
pubmed: 1 2 2020
medline: 18 8 2021
Statut: ppublish

Résumé

Mitochondrial disorders present in a myriad of ways, which causes them to be included in the differential diagnosis for many patients with undiagnosed disease. A subset of mitochondrial disorders are caused by intrinsic defects in the mitochondrial replication machinery, leading to loss of cellular mitochondrial content over time. The diagnosis of mitochondrial disease is complex. Several best-practice guides are available that enable a higher likelihood of detecting a mitochondrial disorder. The application of genomic sequencing and advanced physiologic analysis of the electron transport chain can offer more definitive evidence of mitochondrial dysfunction.

Identifiants

DOI: 10.1016/j.clp.2019.10.008 PMID: 32000920
pubmed: 32000920
pii: S0095-5108(19)30138-1
doi: 10.1016/j.clp.2019.10.008
pii:
doi:

Substances chimiques

DNA, Mitochondrial 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

123-141

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure D. Basel is an unpaid member of the FDNA Scientific Advisory Board.

Auteurs

Donald Basel (D)

Department of Pediatrics, Division of Genetics, Medical College of Wisconsin, 9000 West Wisconsin Avenue, MS #716, Milwaukee, WI 53226, USA. Electronic address: dbasel@mcw.edu.

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Classifications MeSH

questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › Diagnostic › Pronostic › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Mitochondrial DNA Depletion Syndromes.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › Mitochondrial DNA Depletion Syndromes.