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Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyrias, Hepatic > Porphyria, Acute Intermittent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyrias, Hepatic > Porphyria, Acute Intermittent
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyrias, Hepatic > Porphyria, Acute Intermittent
Digestive System Diseases > Liver Diseases > Porphyrias, Hepatic > Porphyria, Acute Intermittent

Terme préférentiel

Porphyria, Acute Intermittent  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

Concept générique

Concepts associés

Synonyme(s)

  • Acute Porphyria

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-LN2ZLP08-B

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RDF/XML TURTLE JSON-LD Date de création 22/05/1992, dernière modification le 05/06/2015