Loss-of-function mutations in DBT cause MSUD2

Stable Identifier
R-HSA-9865113
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Loss-of-function mutations in DBT cause MSUD2
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Loss-of-function mutations in DBT disrupt the integrity of the E2 subunit of BCKDH, resulting in MSUD2 (reviewed in Strauss et al, 2020; Biswas et al, 2019).
Literature References
PubMed ID Title Journal Year
20301495 Maple Syrup Urine Disease

Puffenberger, EG, Strauss, KA, Carson, VJ

2006
31084571 Role of branched-chain amino acid-catabolizing enzymes in intertissue signaling, metabolic remodeling, and energy homeostasis

Biswas, D, Pulinilkunnil, T, Duffley, L

FASEB J 2019
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
Authored
Rothfels, K  (2024-07-29)
Reviewed
D'Eustachio, P  (2024-08-18)
Created
Rothfels, K  (2024-03-08)
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