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


GALACTOSEMIA Definition Galactosemia is an inherited disorder of carbohydrate metabolism, in which galactose cannot be converted to glucose because of the missing or deficient enzyme, galactose-1phosphate uridyl transfer
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Document Date: 2007-06-25 16:36:19


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MedicalCondition

classic galactosemia / inherited disorder / Outcome Classic galactosemia / Fanconi syndrome / mental retardation / cataracts / liver dysfunction / seizures / autosomal recessive metabolic disorder / Inheritance Galactosemia / gram-negative sepsis / cirrhosis / almost total deficiency / Galactosemia / vomiting / speech disorders / disorder / diarrhea / galactosemia screen / hypoglycemia / GALACTOSEMIA Definition Galactosemia / /

MedicalTreatment

blood transfusions / /

Organization

Dept of Health / Organization For Endocrine / US Federal Reserve / National Organization For Rare Disorders / Department of Health / /

Person

Holmes Morton / /

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Position

pediatric metabolic specialist / physician / consultant / GALT Units/g Hb / Attending physician / /

URL

http /

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