Diseases of mitochondrial beta oxidation

Stable Identifier
R-HSA-9759774
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases of mitochondrial beta oxidation
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Of the array of known defects of mitochondrial lipid metabolism, one is annotated in Reactome, methylmalonic acidurioa due to deficiencies of the MMUT (Methylmalonyl-CoA mutase, mitochondrial) enzyme (Worgan et al. 2006)
Literature References
PubMed ID Title Journal Year
16281286 Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

Niles, K, Worgan, LC, Rosenblatt, DS, Lepage, P, Hofmann, A, Kucic, T, Tirone, JC, Sammak, A, Verner, A

Hum. Mutat. 2006
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Disease
Name Identifier Synonyms
lipid metabolism disorder DOID:3146 dyslipidemia, fatty acid metabolism disorder
Authored
D'Eustachio, P  (2021-12-13)
Reviewed
Jassal, B  (2021-08-06)
Created
D'Eustachio, P  (2021-12-13)
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