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porphyria
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Definitions of porphyria in various dictionaries:
noun - a genetic abnormality of metabolism causing abdominal pains and mental confusion
Any of several disorders of porphyrin metabolism, usually hereditary, characterized by the presence of large amounts of porphyrins in the blood and urine.
PORPHYRIA - Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. The types that affe...
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Possible Dictionary Clues |
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Any of several disorders of porphyrin metabolism, usually hereditary, characterized by the presence of large amounts of porphyrins in the blood and urine. |
a genetic abnormality of metabolism causing abdominal pains and mental confusion |
a condition in which there are too many enzymes called porphyrins in the blood and urine causing problems with the nerves |
Porphyria description |
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Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. Complications may include paralysis, low blood sodium levels, and seizures. Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. If the skin is affected, blisters or itching may occur with sunlight exposure.Most types of porphyria are inherited from a person's parents and are due to a mutation in one of the genes that make heme. They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner. One type, porphyria cutanea tarda, may also be due to increased iron in t |