Aldolase A deficiency

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Aldolase A deficiency (pronounced: al-DOH-lase A deficiency) is a rare genetic disorder that affects the body's ability to break down sugars into energy. It is also known as Fructose intolerance, Hereditary fructose intolerance (HFI), or Aldolase deficiency.

Etymology

The term "Aldolase A deficiency" is derived from the name of the enzyme that is deficient in this condition, Aldolase A. The word "Aldolase" comes from the chemical reaction it catalyzes, the aldol reaction, and the letter "A" denotes the specific isozyme involved.

Symptoms

The symptoms of Aldolase A deficiency typically appear in infancy or early childhood and can include vomiting, abdominal pain, and hypoglycemia (low blood sugar). In severe cases, the condition can lead to liver failure and death.

Causes

Aldolase A deficiency is caused by mutations in the ALDOA gene, which provides instructions for making the Aldolase A enzyme. This enzyme is involved in glycolysis, the process that breaks down glucose for energy.

Diagnosis

Diagnosis of Aldolase A deficiency is typically made through a combination of blood tests, genetic testing, and liver biopsy.

Treatment

There is currently no cure for Aldolase A deficiency. Treatment is focused on managing symptoms and preventing complications. This often involves a strict diet that avoids fructose and other sugars that the body cannot break down.

See also

External links

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