2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency

Healthcare/Doctors

How do I find a center of excellence in 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

A "Clinic Services Search Engine" (http://www.ohsu.edu/xd/health/child-development-and-rehabilitation-center/clinics-and-programs/cdrc-portland-programs/metabolic-disorders-program/us-metabolic-clinics.cfm) has been designed for patients with acidemia to find specialists in their area. Because of how rare 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is- there have only been 11 documented cases, it may be difficult to find a doctor that specializes in the deficiency.

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What specialist doctors should I see with 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

If I have 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency, what should my doctor know about managing the deficiency?

What specialist doctors should I see with 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

It is recommended that patients with for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency see a genetic counselor or a geneticist. Patients with this syndrome should also be followed by a metabolic specialist to help monitor the individual's diet. Regular vision and hearing screening can monitor for loss. People with seizures will need to be seen by a neurologist. Talk to your doctor about the specialists in your area.

If I have 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency, what should my doctor know about managing the deficiency?

Because of how rare 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is, nutrition is currently the only treatment for this syndrome. The doctor should know to follow the patient's milestones, since intellectual delay has been documented, and ensure the patient should be seeing a metabolic specialist (nutritionist) regularly. Regular vision and hearing screening can monitor for loss. People with seizures will need to be seen by a neurologist. Talk to your doctor about the specialists in your area.

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