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

Preferred term

Porphyria, Acute Intermittent  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Acute Porphyria
  • Acute Porphyrias
  • Porphyria, Acute
  • Porphyrias, Acute

Scope note

  • 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.

History note

  • 1993

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URI

http://www.yso.fi/onto/mesh/D017118

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