U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial Enzyme Deficiency

MedGen UID:
853513
•Concept ID:
C1963826
•
Disease or Syndrome

Definition

A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes. [from NCI]

Professional guidelines

PubMed

Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free PMC Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005

Recent clinical studies

Etiology

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, Eiberg H, Yang H, Kølvraa S, Bolund L, Gregersen N
J Hum Genet 2007;52(1):56-65. Epub 2006 Oct 27 doi: 10.1007/s10038-006-0080-7. PMID: 17072495

Diagnosis

Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.
Krägeloh-Mann I, Grodd W, Schöning M, Marquard K, Nägele T, Ruitenbeek W
Dev Med Child Neurol 1993 Sep;35(9):769-76. doi: 10.1111/j.1469-8749.1993.tb11728.x. PMID: 7689066
MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect.
Medina L, Chi TL, DeVivo DC, Hilal SK
AJR Am J Roentgenol 1990 Jun;154(6):1269-74. doi: 10.2214/ajr.154.6.2159689. PMID: 2159689
MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect.
Medina L, Chi TL, DeVivo DC, Hilal SK
AJNR Am J Neuroradiol 1990 Mar-Apr;11(2):379-84. PMID: 2156413Free PMC Article

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.

    Related information

    • 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...