Galactosemia

What this deck covers

Galactosemia in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Classic galactosemia, Neonatal hepatitis B infection, Biliary atresia, Physiological jaundice, Group B Streptococcus, Staphylococcus aureus, Escherichia coli, Listeria monocytogenes, GALT enzyme activity, Urine galactitol level, Serum bilirubin, RBC galactose-1-phosphate, Urine reducing substances and liver biopsy, Total serum galactose and abdominal ultrasound, RBC Gal-1-P levels and urine galactitol only, Classic galactosemia (GALT deficiency), Galactose epimerase deficiency, severe form, Duarte variant galactosemia, Galactokinase deficiency (GALK deficiency), Ophthalmology cataract check only, Liver biopsy and hepatic panel, Developmental, speech and endocrine evaluation, Renal function tests and urinalysis, Hypothyroidism due to iodine deficiency, Growth hormone deficiency, Congenital adrenal hyperplasia.

Clinical pearls from this deck

• The classic triad is a jaundiced breastfed neonate + hepatomegaly + positive urine reducing substances. The decisive detail is that Clinitest is positive while the glucose dipstick is negative — the dipstick is glucose-specific, so a reducing substance that is not glucose means galactose.
• E. coli sepsis is the classic killer in untreated galactosemia. Accumulated galactose-1-phosphate impairs neutrophil bactericidal function, so innate immunity cannot clear gram-negative organisms. Death often precedes the diagnosis.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.