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Porphyrias

More information in Books or onNLM PubMed
Definition: A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.  general or unspecified: prefer specifics   
See Also Hydroxymethylbilane Synthase; Porphobilinogen Synthase
Examples Porphyria, Erythropoietic; Porphyrias, Hepatic
Other names Porphyria
 
SubstanceCAS Registry & nameCategoriesSource
Yusho Disease  0   *Porphyrias.
Porphyria, Chester type  0   *Porphyrias.
heme arginate  100438-92-4   *Heme *Arginine Heme Oxygenase (Decyclizing) Porphyrias. Nord Med 1986;101(4):132
phyriazulin  68822-15-1   *Indoles Porphyrias. Biochim Biophys Acta 543(4):583;1978
phyriaviolin  65381-15-9 Phyriaviolin  *Indoles Porphyrias. Biochim Biophys Acta 500:433;1977

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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