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Galactosemia / Biology / Galactose-1-phosphate uridylyltransferase deficiency / Galactose—1-phosphate uridylyltransferase / Galactosemic cataract / Galactokinase / Galactitol / Galactose / Newborn screening / Inborn errors of carbohydrate metabolism / Health / Medicine


Galactosemia Carmen Lozzio, MD University of Tennessee Developmental and Genetics Center Knoxville, Tennessee Outcome without screening:
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Document Date: 2006-10-30 12:05:26

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Country

Japan / United States / Ireland / /

Facility

MD University of Tennessee Developmental / /

IndustryTerm

treatment for this disorder / /

MedicalCondition

language delay / mental retardation / cataracts / disease / seizures / Classical galactosemia / liver failure / positive galactosemia screen / galactosemia screening / cirrhosis / Duarte galactosemia variant / enzyme deficiency causing galactosemia / galactosemia / vomiting / disorder / inherited autosomal-recessive disorder / severe hypoglycemia / deficiency / liver disease / hypoglycemia / irreversible cataracts / sepsis / disorders / gram negative sepsis / dehydration / /

MedicalTreatment

blood transfusion / /

Organization

Metabolic Center / University of Tennessee Developmental and Genetics Center Knoxville / Genetic/Metabolic Center / /

Position

nutritionist / physician / /

Technology

electrophoresis / genotype / /

SocialTag