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Literature summary for 1.1.1.178 extracted from

  • Garcia-Villoria, J.; Navarro-Sastre, A.; Fons, C.; Perez-Cerda, C.; Baldellou, A.; Fuentes-Castello, M.A.; Gonzalez, I.; Hernandez-Gonzalez, A.; Fernandez, C.; Campistol, J.; Delpiccolo, C.; Cortes, N.; Messeguer, A.; Briones, P.; Ribes, A.
    Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis (2009), Clin. Biochem., 42, 27-33.
    View publication on PubMed

Application

Application Comment Organism
medicine MHBD deficiency is a X-linked inborn error in the metabolism of isoleucine. Impairment of energy metabolism seems to play a role in the pathogenesis of MHBD deficiency. Males are more severely affected than females by MHBD deficiency. Male patients with MHBD deficiency before 10 months of age show neurodegeneration, while female carriers show a variety of symptoms (borderline learning difficulties to psychomotor and speech delay) Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
27000
-
immunoblot analysis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2-methyl-3-hydroxybutyryl-CoA + NAD+
-
Homo sapiens 2-methylacetoacetyl-CoA + NADH + H+
-
?

Synonyms

Synonyms Comment Organism
2-methyl-3-hydroxybutyryl-CoA dehydrogenase
-
Homo sapiens
MHBD
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
Homo sapiens