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6968 Biochemistry

A 3-week-old neonate who began vomiting 2 days after birth, usually within 30 minutes after breastfeeding. He also has abdominal distension with enlargement of liver, with jaundice. The consulting doctor did two urine dipstick test, one specific for glucose was negative, second test specific for reducing sugar was positive. What is the diagnosis?

AHereditary fructose intolerance
BClassic galactosemia
CEssential fructosuria
DEssential pentosuria
Biochemistry
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6973 Biochemistry

A baby that was apparently normal at bih begins to show a delay in motor development by 3 months of age. At one year of age, the child begins to develop spasticity and writhing movements. At age three, compulsive biting of fingers and lips and head-banging appear. At pubey, the child develops ahritis, and death from renal failure occurs at age 25. This patient’s condition is due to an enzyme deficiency in which of the following biochemical pathways?

AGanglioside metabolism
BMonosaccharide metabolism
CPurine metabolism
DPyrimidine metabolism
Biochemistry
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