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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A 1-month-old infant is brought to the emergency department because of failure to thrive and recurrent vomiting. The patient was born full-term at home via an uncomplicated vaginal delivery. Shortly after birth, the patient began experiencing nausea and vomiting after feedings. The patient was at the 50th percentile for weight at birth. At today’s visit, the patient is at the 25th percentile. Temperature is 36.9°C (98.4°F), pulse is 108/min, blood pressure is 77/40 mmHg, and respiratory rate is 56/min. Physical examination reveals jaundice and hepatomegaly. Fundoscopic examination reveals bilateral clouding of the lens. Urine dipstick is negative for glucose. Additional testing reveals the presence of reducing substances in the urine. Which of the following is the most likely diagnosis?

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