Aldolase B deficiency

Biochem lec prefinal

What is aldolase B deficiency also called?

Hereditary fructose intolerance (HFI)

What causes Aldolase B deficiency

Mutations in the ALDOB gene → lack of aldolase B enzyme

What organs are affected by toxic fructose buildup?

Liver, kidneys, and intestines

How common is hereditary fructose intolerance?

Rare, 1 in 20-30 thousand births

What inheritance pattern does HFI follow?

autosomal recessive

When does HFI usually present?

In infancy/ early childhood after ingestion of fructose, sucrose, or sorbitol

What accumulates in tissues due to aldolase B deficiency

Fructose 1 phosphate

Why does fructose 1 phosphate buildup cause problems

Inhibits glycogenolysis (breaking down of stored glycogen) & gluconeogenesis (non carbs: lactate, glycerol, amino acids, are converted into glucose) → severe hypoglycemia + Depletion of cellular energy (ATP)

What happens when ATP is depleted in cells?

Liver & kidney dysfunction

What short-term symptoms occur after ingesting fructose

Vomiting, sweating, irritability, tremors, seizures

What long-temr symptoms develop with continued fructose intake?

Poor growth, hepatomegaly, jaundice, dislike for sweet foods

How is HFI suspected clinically?

Symptoms after fructose ingestion + lab findings of hypoglycemia and liver problems

How is the diagnosis confirmed

Genetic testing for ALDOB mutations

What is the key treatment for Aldolase B deficiency

Strict lifelong avoidance of fructose, sucrose, and sorbitol

What should be given to treat acute hypoglycemia in HFI?

Glucose

What long-term monitoring is needed?

Regular checks of liver and kidney health

Is aldolase B deficiency manageable

Yes, with early recognition and strict dietary management