Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Acyl-CoA Dehydrogenase, Long-Chain
/ genetics
Adult
Age of Onset
Ataxia
/ diagnosis
Child
Electron-Transferring Flavoproteins
/ genetics
Energy Metabolism
/ genetics
Humans
Iron-Sulfur Proteins
/ genetics
Male
Mitochondria
/ genetics
Mitochondrial Diseases
/ diagnosis
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
/ genetics
Muscle Weakness
/ diagnosis
Oxidoreductases Acting on CH-NH Group Donors
/ genetics
Ubiquinone
/ analogs & derivatives
Young Adult
ETFDH
electron transport chain
glutaric acidemia type 2
mitochondria
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
16
04
2020
revised:
22
06
2020
accepted:
29
06
2020
pubmed:
18
8
2020
medline:
2
6
2021
entrez:
18
8
2020
Statut:
ppublish
Résumé
Glutaric acidemia type 2 (GA2), also called multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism resulting in excretion of multiple organic acids and glycine conjugates as well as elevation of various plasma acylcarnitine species (C4-C18). It is caused by mutations in the ETFA, ETFB, or ETFDH genes which are involved in the transfer of electrons from 11 flavin-containing dehydrogenases to Coenzyme Q
Identifiants
pubmed: 32804429
doi: 10.1002/ajmg.a.61786
pmc: PMC8543298
mid: NIHMS1728432
doi:
Substances chimiques
Electron-Transferring Flavoproteins
0
Iron-Sulfur Proteins
0
Ubiquinone
1339-63-5
Acyl-CoA Dehydrogenase, Long-Chain
EC 1.3.8.8
ACADVL protein, human
EC 1.3.8.9
Oxidoreductases Acting on CH-NH Group Donors
EC 1.5.-
electron-transferring-flavoprotein dehydrogenase
EC 1.5.5.1
coenzyme Q10
EJ27X76M46
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2426-2431Subventions
Organisme : NIDDK NIH HHS
ID : K08 DK105233
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK078775
Pays : United States
Organisme : NIDDK NIH HHS
ID : K08DK105233
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals LLC.
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