U01.17.023 Classic Galactosemia
Study this flashcard to identify the genetic defect, enzyme deficiency, and clinical manifestations of Classic Galactosemia. Recall the complications of galactose-1-phosphate uridyltransferase deficiency, including jaundice, hepatomegaly, and risk of E. coli sepsis in newborns.
Question categories All Questions, U01.17 Review condition and pathophysiology, USMLE Step 1 Review Series
Question tags autosomal recessive, carbohydrate metabolism, cataracts, Classic Galactosemia, Classic Galactosemia diagnosis, Classic Galactosemia review, E. coli sepsis, galactose intolerance, galactose toxicity, galactose-1-phosphate uridyltransferase deficiency, GALT deficiency, hepatomegaly, Inborn Errors of Metabolism, jaundice, Medical Flashcards, Metabolic Disorders, neonatal metabolic disorder, pediatric metabolic disorders, USMLE Step 1
11 Total attempts
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