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City Malvern / / Company Screening Foundation Inc / MSUD Family Support Group / MSUD Family Support Group 24806 SR119 Goshen / / Country Taiwan / United Kingdom / / / Facility Oregon Health Services University / Climb Building / National Library of Medicine Genetics Home Reference Maple / / / MedicalCondition classical disease / Inherited Metabolic Diseases / KETO ACID DECARBOXYLASE DEFICIENCY / seizures / E3 gene deficiency / brain edema / coma / Lethargy / BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY / chronic high level / Neonatal classic disease / email@savebabies.org Maple Syrup Urine Disease / Pseudotumor cerebri / demyelination / Name MAPLE SYRUP URINE DISEASE / hypotonia / dystonia / MS / Hypoglycemia / episodic acidosis / / Organization Organization For Endocrine & Metabolic Diseases / Oregon Health Services University in Portland / steve@climb.org.uk www.climb.org.uk Save Babies Through Screening Foundation / Coalition for PKU / / Person Trish Mullaley / Sara Copeland / Judith Tuerck / Lorinda Paradise / Joyce Brubacher / / / ProvinceOrState Oregon / Iowa / Pennsylvania / Indiana / / PublishedMedium Natural History / / Technology ALPHA / / URL www.pku-allieddisorders.org / http / SocialTag 
Disease Name MAPLE SYRUP URINE DISEASE (MSUD) (BRANCHED-CHAIN KETOACIDURIA; BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY; MSUD; KETO ACID DECARBOXYLASE DEFICIENCY) Organic aciduria Classification: