Comprehensive molecular genetic diagnosis of lactose and fructose intolerance (MCM6 gene and ALDOB gene)

Lactose intolerance, or lactase deficiency, is a condition in which the breakdown and absorption of milk sugar (lactose) is impaired due to deficiency of the enzyme lactase. The ability to digest lactose varies significantly depending on age and ethnic background. Clinically, this condition manifests as diarrhea, abdominal bloating and excessive gas production, nausea, and abdominal pain. The lactase enzyme is encoded by the LCT gene. The MCM6 gene is located in close proximity to the LCT gene and regulates its expression. Genetically determined (primary) adult-type lactose intolerance is generally associated with an aberration in the MCM6 gene.

Fructose intolerance is caused by abnormalities 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 a child's diet (juices, fruit purees, cereals). After eating, a paradoxical decrease in blood glucose level develops, the child becomes lethargic, and nausea, vomiting, diarrhea, sweating, and tremor occur, up to seizures. Fructose intolerance is caused by abnormalities in the ALDOB gene, which encodes the enzyme aldolase B (pathogenic variants p.A149P and p.A174D).

Within 11 days. The specified time does not include the day of biomaterial collection