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2269 Biochemistry

A 2-year-old girl presented with recurrent abdominal pain. She was admitted in pediatrics for detailed work up. When her blood was drawn for investigation it was milky white. Yellowish white papules noted on the dorsum of hands. On fundoscopic examination opalescent retinal vessels were seen. Fasting triglycerides >1000mg/dL, but cholesterol level was normal. What is the diagnosis?

AFamilial chylomicronemia syndrome
BFamilial defective Apo B
CSitostrelomia
DFamilial dysbetalipoproteinemia
Biochemistry
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2271 Biochemistry

A newborn baby refuses breast milk since the second day of birth, vomits on force-feeding but accepts glucose-water, develops diarrhea on third day, by fifth day she is jaundiced with liver enlargement and eyes show cataract. Urinary reducing sugar was positive but blood glucose estimated by glucose oxidation method was found low. The most likely cause is deficiency of:

AGalactose 1-phosphate uridyl transferase
BBeta galactosidase
CGlucose 6-phosphate
DGalactokinase
Biochemistry
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