2. Biology Dictionary
  3. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency

Definition:

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills.

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