2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase (2-methyl-3-hydroxybutyryl-CoA dehydrogenase)

reaction:(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH; deficiency is associated with progressive infantile neurodegeneration

Also Known As:

2-methyl-3-hydroxybutyryl-CoA dehydrogenase; (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ - oxidoreductase; 2-MHB-CoA dehydrogenase

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Alcohol Oxidoreductases: 56
      - NAD (+) and NADP (+) Dependent Alcohol Oxidoreductases
        3-Hydroxyacyl CoA Dehydrogenases
        2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase: 5

Experts

1.	Ofman, Rob: 2 articles (09/2005 - 04/2004)
2.	Wanders, Ronald J A: 2 articles (09/2005 - 04/2004)
3.	Bernard, Geneviève: 1 article (12/2019)
4.	Boucher, Renée-Myriam: 1 article (12/2019)
5.	Buhas, Daniela: 1 article (12/2019)
6.	Cyr, Denis: 1 article (12/2019)
7.	Gravel, Serge: 1 article (12/2019)
8.	Lace, Baiba: 1 article (12/2019)
9.	Lévesque, Sébastien: 1 article (12/2019)
10.	Maranda, Bruno: 1 article (12/2019)

Related Diseases

1.	Mitochondrial Diseases (Mitochondrial Disease) 12/01/2019 - "HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. " 09/01/2005 - "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease."
2.	Neurologic Manifestations (Neurological Manifestations) 12/01/2006 - "In contrast, short/branched-chain acyl-CoA dehydrogenase (SBCAD) and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiencies are recently described and relatively rare defects which present with predominantly neurological manifestations, although acute metabolic decompensation may occur in the early newborn period. "
3.	Cerebral Palsy (Spastic Diplegia) 04/01/2004 - "A 19-month-old boy with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a defect of isoleucine degradation, had cognitive and motor development delay, spastic diplegia, dysmorphism, and occipital periventricular white matter lesions on MRI scan of the brain. "
4.	Tiglic acidemia 01/01/2004 - "We describe a further case of recently reported 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a disorder of isoleucine metabolism. "

Related Drugs and Biologics

1.	Isoleucine (L-Isoleucine)
2.	Proteins (Proteins, Gene)
3.	2-methylacyl-CoA dehydrogenase