Yerevan
EN
Lab tests
42-128

Diagnosis of hereditary fructosemia (p.A149P (c.448G>C ; p.Ala150Pro), p.A174D (.524C>A;p.Ala175Asp) in ALDOB gene)

Description

Fructose intolerance is caused by disorders in the ALDOB gene, which encodes the enzyme aldolase B. The onset of fructose intolerance is usually associated with the introduction of sweet complementary foods into the child's diet (juices, fruit purees, cereals). After eating, a paradoxical decrease in blood glucose levels develops, the child becomes lethargic; nausea, vomiting, diarrhea, sweating, tremor occur, up to convulsions.

Period of execution

Within 9 days. The specified time does not include the day of biomaterial collection

Biomaterial type

  • Venous blood
Total price
27935 ֏
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