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Porphyria

Endocrine, Nutritional and Metabolic Diseases

Porphyria is a group of rare disorders, most of them inherited, caused by deficiencies in enzymes along the pathway the body uses to produce heme, the iron-containing component of hemoglobin, leading to a buildup of heme precursors called porphyrins. The acute forms mainly affect the nervous system and can cause severe abdominal pain, vomiting and psychiatric symptoms during attacks, while the cutaneous forms mainly affect the skin, causing blistering and pain on exposure to sunlight. Some historians have suggested that King George III of Britain suffered from an acute porphyria, a theory that remains debated among medical historians.

Facts
Classification
Body System
Endocrine System 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
First Described
370 BCE 3
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IV
Quote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
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2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health Organization
  • Lead section, transmission-route statement (inferred from disease-category)
    The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
  • Main Types section
    The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
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3. Porphyria (Wikipedia)
  • Disease was described as early as 370 BC by Hippocrates, article intro
  • lead paragraph
    Genetic testing may be done to determine the specific mutation.
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