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HMBS

Associated conditions:

  • Acute intermittent porphyria

HMBS makes an enzyme in the assembly line that builds heme, the molecule that carries oxygen and helps break down substances in the liver. Genetic changes in this gene are associated with an autosomal dominant condition called acute intermittent porphyria, where certain drugs, hormones, or fasting can trigger severe attacks of pain and nerve symptoms. Knowing your genetic status enables carriers to avoid those triggers.

Conditions linked to HMBS

Acute intermittent porphyria

Acute intermittent porphyria affects how the body makes heme, part of the oxygen-carrying molecule in blood. A build-up of precursors can trigger attacks of severe abdominal pain and nerve or mental symptoms, often set off by certain drugs, fasting or hormones, so knowing your status helps you avoid those triggers.