porphyria
Porphyrin accumulation disease
Porphyria is a group of rare metabolic disorders affecting the production of heme, a component of hemoglobin.
The body accumulates porphyrins, causing symptoms ranging from skin sensitivity to sunlight to severe abdominal pain and neurological problems.
Some forms produce reddish urine.
The disease has been speculatively linked to vampire legends, since sufferers may avoid sunlight and, in severe cases, show gum recession that makes teeth appear fanglike.
Discomfort in the belly
- neuropathyDamage to peripheral nerves
- skin lesionsDamaged areas of dermis
- tachycardiaExcessively fast pulse
- hyponatremiaInsufficient blood sodium levels
photosensitivity · blistering · neurological symptoms · seizures · confusion · anxiety · constipation · vomiting
Iron-porphyrin complex in blood
- precursorsThings preceding others
- biosynthesisLiving production of molecules
- hemoglobin synthesisProduction of blood's oxygen carrier
- cytochromeHeme protein transferring electrons
uroporphyrinogen · mitochondria · intermediates · metabolites · excretion · accumulation
Passed through generations
- mutationPermanent DNA alteration
- geneHereditary information unit
- inheritanceProperty received from ancestors
- carrierOne that transports
family history · genetic testing · genetic counseling · penetrance · predisposition · inherited · latent
Reducing patient suffering medically
- hospitalizationFormal entry into medical care
- liver transplantSurgical organ replacement
- phlebotomyExtracting blood medically
- beta-caroteneOrange plant pigment
Radiance from our star
- blisteringExtremely intense or severe
- scarringPermanent mark formation
- hyperpigmentationLocalized skin darkening condition
- erythemaCutaneous vascular flushing
Intoxicating hydroxyl compound
- fastingDeliberate food avoidance
- hormonesBloodstream signaling molecules
- barbituratesSedative-hypnotic drug class
- sulfonamidesAntimicrobial sulfa-based medications
stress · smoking · menstruation · contraceptives · infections · surgery · drug interactions
King George III
British ruler, late 1700s
abdominal pain
Discomfort in the belly
- neuropathyDamage to peripheral nerves
- skin lesionsDamaged areas of dermis
- tachycardiaExcessively fast pulse
hyponatremia · photosensitivity · blistering · neurological symptoms · seizures · confusion · anxiety · constipation · vomiting · muscle weakness
heme
Iron-porphyrin complex in blood
- precursorsThings preceding others
- biosynthesisLiving production of molecules
- hemoglobin synthesisProduction of blood's oxygen carrier
uroporphyrinogen · cytochrome · mitochondria · intermediates · metabolites · excretion · accumulation
variegate
Mark with different colors
hereditary
Passed through generations
- mutationPermanent DNA alteration
- geneHereditary information unit
- inheritanceProperty received from ancestors
carrier · family history · genetic testing · genetic counseling · penetrance · predisposition · inherited · latent
pain management
Reducing patient suffering medically
- hospitalizationFormal entry into medical care
- liver transplantSurgical organ replacement
- phlebotomyExtracting blood medically
sunlight
Radiance from our star
- blisteringExtremely intense or severe
- scarringPermanent mark formation
- hyperpigmentationLocalized skin darkening condition
erythema · protective clothing · sunscreen · UV exposure · milia
alcohol
Intoxicating hydroxyl compound
- fastingDeliberate food avoidance
- hormonesBloodstream signaling molecules
- barbituratesSedative-hypnotic drug class
sulfonamides · stress · smoking · menstruation · contraceptives · infections · surgery · drug interactions