Porphyria (Noun)
Meaning
A genetic abnormality of metabolism causing abdominal pains and mental confusion.
Classification
Nouns denoting natural processes.
Examples
- Her family's medical history revealed a prevalence of porphyria, a condition that had afflicted many of her relatives for generations.
- Due to his porphyria diagnosis, the doctor advised him to avoid certain medications that could exacerbate his symptoms.
- Porphyria can be quite debilitating if left untreated, leading to frequent hospitalizations and a significant decrease in quality of life.
- The patient experienced episodic attacks of abdominal pain, peripheral neuropathy, and mental confusion, all characteristic symptoms of acute intermittent porphyria.
- The genetic counselor informed the family that their daughter's porphyria was caused by a mutation of the HMBS gene.