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Medicine / Epidemiology / Newborn screening / Pediatrics / 3-hydroxybutyryl-CoA dehydrogenase / Carnitine / Organic acidemia / Hyperammonemia / Butyryl-CoA dehydrogenase / Chemistry / Health / EC 1.1.1


Disease Name 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (MHBD) (HYDROXYL-CoA DEHYDROGENASE DEFICIENCY; 3-HYDROXY-2METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY) Organic aciduria Classification: Inheritance:
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Document Date: 2007-06-25 16:36:49

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City

Plymouth / /

Company

CVS / /

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Facility

Oregon Health Services University / /

MedicalCondition

retinal degeneration / HYDROXYL-CoA DEHYDROGENASE DEFICIENCY / Mental retardation / viral infection / DEHYDROGENASE DEFICIENCY / acidosis / seizures / epilepsy / spastic diplegia / dystonia / HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY / illness / MS / hearing loss / hypoglycemia / /

MedicalTreatment

vaccinations / /

Organization

Organic Acidemia Association / Oregon Health Services University in Portland / /

Person

Lorinda Paradise / Sara Copeland / Judith Tuerck / /

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ProvinceOrState

Oregon / Minnesota / Iowa / /

PublishedMedium

Natural History / /

Technology

MRI / /

URL

www.oaanews.org / /

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