Galactosemia

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Summary of Galactosemia

Galactosemia is a rare autosomal recessive genetic metabolic disorder that affects galactose metabolism. Galactosemia results from a deficiency in one of the enzymes responsible for galactose degradation, usually galactose-1-phosphate uridyltransferase, which results in toxin accumulation in the liver, eyes, and brain.

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Galactosemia

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Chapter 41 Carbohydrate Metabolism Disorders GALACTOSEMIA osms.it/galactosemia PATHOLOGY & CAUSES ▪ Disease characterized by altered metabolism of galactose CAUSES ▪ Autosomal recessive disorder SIGNS & SYMPTOMS ▪ ▪ ▪ ▪ ▪ FTT Vomiting, diarrhea with lactation Jaundice, hepatomegaly Cataract Intellectual disability, lethargy, speech disorder, altered muscle coordination (ataxia) Three possible mutations ▪ Galactose-1-phosphate uridyl transferase (GALT) deﬁciency (most common) ▫ Accumulation of galactose-1-phosphate + alternative metabolic pathway activation → accumulation of galactose metabolites (galactitol, galactonate) ▪ Galactokinase deﬁciency (uncommon) ▫ Less severe, often asymptomatic ▪ Uridine diphosphate (UDP) galactose-4epimerase deﬁciency (uncommon) LAB RESULTS COMPLICATIONS OTHER INTERVENTIONS ▪ Metabolites accumulate in ▫ Eyes: increasing osmotic pressure → water attraction → opaciﬁcation of lens (cataract) ▫ Liver: fatty alteration, cirrhosis ▫ Brain: cell damage, edema, gliosis ▫ Kidney: prevent amino acid reabsorption → aminoaciduria ▪ Altered neutrophil activity → increased risk of sepsis from E.coli ▪ Gonadal failure, hemolysis, coagulopathy DIAGNOSIS ▪ Routinely screened in newborns ▫ Dosage of enzymes involved in galactose metabolism TREATMENT ▪ Elimination of galactose from diet OSMOSIS.ORG 239

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Galactosemia

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The enzyme is deficient in patients with classic galactosemia.

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A 1-year-old boy is brought to the emergency department because his mother is concerned that there may be something wrong with her child's eyes. She says that the child does not track her movement and believes that his eyes are getting "cloudy." A pediatric eye examination shows a negative red reflex and mature, nuclear cataracts in the toddler bilaterally. Which of the following enzymes is most likely deficient in this toddler?

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