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2-Methylbutyryl-CoA dehydrogenase deficiency / 2-Methylbutyryl-CoA / Newborn screening / Hypoglycemia / Carnitine / Health / Medicine / Rare diseases


Disease Name 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (2MBCD) (SHORT/BRANCHED CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; 2METHYLBUTYRYLGLYCINURIA) Organic aciduria and fatty acid oxidation defect. Classification: Inher
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Document Date: 2007-06-25 16:35:43

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City

Portland / /

Company

CVS / /

Facility

Oregon Health Services University / /

MedicalCondition

lethargy / cerebral palsy / mental retardation / disorder / muscular atrophy / strabismus / hypotonia / SHORT/BRANCHED CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY / MS / dysfunction / hypoglycemia / apnea / METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY / /

Person

Lorinda Paradise / Sara Copeland / Judith Tuerck / /

Product

glycine / /

ProvinceOrState

Maryland / Oregon / Iowa / /

PublishedMedium

Natural History / /

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