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  2. 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.

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いIFの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。
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