Genetic Test
HMBS (Hydroxymethylbilane Synthase) is a gene encoding hydroxymethylbilane synthase, the third enzyme in the biological metabolic pathway responsible for heme production. This genetic test targets six specific gene variants associated with acute intermittent porphyria.
Disease Description
Acute intermittent porphyria is a genetic disorder arising from disruptions in the biosynthesis of heme, a crucial component required for oxygen transport. Mutations in the HMBS gene, which encodes one of the essential enzymes involved in heme synthesis, prevent the conversion of porphyrins into heme. Consequently, porphyrins accumulate excessively in the body, leading to various systemic health issues.
