About: Porphyria   Sponge Permalink

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Porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skinproblems, or occasionally both. Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, peripheral neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin. Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or

AttributesValues
rdfs:label
  • Porphyria
rdfs:comment
  • Porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skinproblems, or occasionally both. Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, peripheral neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin. Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or
sameAs
dcterms:subject
mortalityrate
  • Moderate
symptom
  • Abdominal pain, vomiting, seizures, increased heart rate
dbkwik:house/prope...iPageUsesTemplate
Current Year
  • 2012(xsd:integer)
Appearances
Next Year
  • 2013(xsd:integer)
Name
  • Porphyria
Type
treatment
  • Hematin and Haem Arginate, avoidance of sunlight
Cause
  • Enzyme deficiency
Previous Year
  • 2012(xsd:integer)
previous article
  • Season 8
current month
  • December
previous month
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  • January
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  • Paraneoplastic syndrome
abstract
  • Porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skinproblems, or occasionally both. Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, peripheral neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin. Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or bone marrow and red blood cells. The term "porphyria" is derived from the Greek πορφύρα, porphyra, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack. Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1871, and acute porphyrias were described by the Dutch physician Barend Joseph Stokvis in 1889. Despite its rarity, the various forms of porphyria are one of most common diagnoses on the series, being the final diagnosis in four episodes.
is diagnosis of
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