3-hydroxy-2- methylbutyryl- CoA Dehydrogenase deficiency (2M3HBA)

Gene
HSD17B10
Location
Xp11.2
Disease
3-hydroxy-2- methylbutyryl- CoA Dehydrogenase deficiency (2M3HBA)
Description
Another name for 2M3HBA is 17?- Hydroxysteroid dehydrogenase type 10 (HSD10) deficiency.
Signs and Symptoms
This disorder is more severe in males. Normal early development, but experience developmental regression around age 5 resulting in intellectual disability and loss of motor skills. Hearing and vision loss may also occur.
Type
Organic Acid Disorder
Category
Secondary

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