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Tricarboxylic acid cycle, defect of

MedGen UID:
376430
•Concept ID:
C1848746
•
Disease or Syndrome
Synonym: Tricarboxylic Acid Cycle, Defect of
 
Monarch Initiative: MONDO:0010151
OMIM®: 275370

Clinical features

From HPO
Abnormality of the nervous system
MedGen UID:
105425
•Concept ID:
C0497552
•
Congenital Abnormality
An abnormality of the nervous system.
See: Feature record | Search on this feature
Persistent lactic acidosis
MedGen UID:
767452
•Concept ID:
C3554538
•
Finding
A continuous form of lactic acidemia.
See: Feature record | Search on this feature
Decreased activity of the pyruvate dehydrogenase complex
MedGen UID:
326605
•Concept ID:
C1839888
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S
J Inherit Metab Dis 2019 Sep;42(5):793-802. Epub 2019 Jul 17 doi: 10.1002/jimd.12143. PMID: 31260114

Prognosis

Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S
J Inherit Metab Dis 2019 Sep;42(5):793-802. Epub 2019 Jul 17 doi: 10.1002/jimd.12143. PMID: 31260114

Clinical prediction guides

Altered expression of succinic dehydrogenase in asthenozoospermia infertile male.
Tomar R, Mishra AK, Mohanty NK, Jain AK
Am J Reprod Immunol 2012 Dec;68(6):486-90. Epub 2012 Sep 17 doi: 10.1111/aji.12023. PMID: 22985091

Supplemental Content

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    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
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    • PubMed (OMIM)
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