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Pyruvate Dehydrogenase E2 Deficiency MeSH Supplementary Concept Data 2023


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 Number
0
Heading Mapped to
*Acidosis, Lactic
*Pyruvate Dehydrogenase Complex Deficiency Disease
Frequency
1
Note
mutation in DLAT
Date of Entry
2012/11/05
Pyruvate Dehydrogenase E2 Deficiency Preferred
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