Gene ALDOB
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Also known as
ALDB, HFIOverview
ALDOB (Aldolase, Fructose-Bisphosphate B) encodes aldolase B, an enzyme primarily expressed in the liver, kidney, and small intestine that catalyzes a key step in fructose and glucose metabolism. This enzyme is essential for the metabolism of dietary fructose and also participates in gluconeogenesis.Mutations in ALDOB cause hereditary fructose intolerance (HFI), an autosomal recessive metabolic disorder characterized by the inability to metabolize fructose, sucrose, and sorbitol. Affected individuals experience severe symptoms including hypoglycemia, vomiting, and abdominal pain when exposed to these sugars. If undiagnosed, continued fructose exposure can lead to liver and kidney damage.
Hereditary fructose intolerance is managed through strict dietary avoidance of fructose, sucrose, and sorbitol. Early diagnosis is critical to prevent organ damage. Understanding your ALDOB genetic status is important for identifying carriers and affected individuals, enabling appropriate dietary interventions.