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Branched-chain amino acids / Rare diseases / Essential amino acids / Ketogenic amino acids / Proteinogenic amino acids / Maple syrup urine disease / Branched-chain alpha-keto acid dehydrogenase complex / Leucine / Medical genetics / Medicine / Health / Chemistry


Maple Syrup Urine Disease (MSUD) (metabolic condition: amino acid disorder) Also known as: • branched-chain alpha-keto acid dehydrogenase deficiency • branched-chain ketoaciduria
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Document Date: 2013-09-16 18:34:36

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Company

2888 Shaganappi Trail N.W. Calgary AB / St. N.W. Edmonton AB / /

Country

Canada / /

Facility

Children’s Hospital / Edmonton Medical Genetics Clinic / Inherited Metabolic Disorders Clinic / Medical Sciences Building / /

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MedicalCondition

lethargy / alpha-keto acid dehydrogenase deficiency / vomiting / metabolic diseases / seizures / amino acid disorders / branched-chain ketoaciduria / coma / muscle rigidity / cerebral edema / amino acid disorder / Maple Syrup Urine Disease / minor illness / /

MedicalTreatment

low protein diet / /

Organization

Inherited Metabolic Disorders Clinic Alberta Children’s Hospital / /

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Position

genetic metabolic specialist / /

Technology

alpha / /

URL

www.albertahealthservices.ca/newbornscreening.asp / /

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