Hereditary fructose intolerance

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Summary of Hereditary fructose intolerance

Hereditary fructose intolerance is a fructose metabolism disorder caused by a deficiency of the enzyme aldolase B. Affected individuals are asymptomatic until ingesting fructose, sucrose, or sorbitol, when the deficiency of aldolase B causes an accumulation of fructose-1-phosphate, which in turn affects glycogenolysis, gluconeogenesis, and regeneration of adenosine triphosphate. Clinical symptoms of fructose intolerance include vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia, and potentially kidney failure.

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Hereditary fructose intolerance

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Hereditary fructose intolerance

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Aldolase B deficiency in hereditary fructose intolerance results in (decreased/increased) available intracellular phosphate.

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USMLE® Step 1 style questions USMLE

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A 6-month-old infant boy is brought to the clinic because of vomiting, sweating, and lethargy for the past week. His mother states that she has been trying to wean him from breast milk to formula, but he has been ill ever since. His temperature is 36.8°C (98.2°F), pulse is 146/min, respirations are 40/min, and blood pressure is 78/60. Physical examination shows tremors and diaphoresis. A basic metabolic panel is obtained and shows the following values:
Sodium: 140 mEq/LPotassium: 3.3 mEq/LChloride: 115 mmol/LBlood urea nitrogen (BUN): 23 mg/dLCreatinine: 1.5 mg/dLBicarbonate: 15 mmol/LGlucose: 40 mg/dL
The patient most likely has elevated serum levels of which of the following compounds?

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