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Pyruvate Dehydrogenase E2 Deficiency
MeSH Supplementary Concept Data 2025
Details
Concepts
MeSH Supplementary
Pyruvate Dehydrogenase E2 Deficiency
Unique ID
C565448
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565448
Entry Term(s)
Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex
Registry Numbers
0
Heading Mapped to
*Acidosis, Lactic
*Pyruvate Dehydrogenase Complex Deficiency Disease
Frequency
1
Note
mutation in DLAT
Date of Entry
2012/11/05
Revision Date
1955/01/01
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Pyruvate Dehydrogenase E2 Deficiency
Preferred
Concept UI
M0565748
Registry Numbers
0
Terms
Pyruvate Dehydrogenase E2 Deficiency
Preferred Term
Term UI
T806805
Date
11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex
Term UI
T831250
Date
10/11/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
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