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Disease Porphyria, Acute Intermittent

Name Porphyria, Acute Intermittent
Synonyms Acute Intermittent Porphyria | Acute Intermittent Porphyrias | Acute Porphyria | Acute Porphyrias | AIP | Deaminase Deficiencies, Porphobilinogen | Deaminase Deficiency, Porphobilinogen | Deficiencies, Hydroxymethylbilane Synthase | Deficiencies, PBGD | Deficiencies, Porphobilinogen Deaminase | Deficiencies, UPS | Deficiencies, Uroporphyrinogen Synthase | Deficiency, Hydroxymethylbilane Synthase | Deficiency, PBGD | Deficiency, Porphobilinogen Deaminase | Deficiency, UPS | Deficiency, Uroporphyrinogen Synthase | Hydroxymethylbilane Synthase Deficiencies | Hydroxymethylbilane Synthase Deficiency | Intermittent Porphyria, Acute | Intermittent Porphyrias, Acute | PBGD Deficiencies | PBGD Deficiency | PORC, INCLUDED | Porphobilinogen Deaminase Deficiencies | Porphobilinogen Deaminase Deficiency | Porphyria, Acute | PORPHYRIA, CHESTER TYPE, INCLUDED | Porphyrias, Acute | Porphyrias, Acute Intermittent | Porphyrias, Swedish Type | Porphyria, Swedish Type | Swedish Type Porphyria | Swedish Type Porphyrias | Synthase Deficiencies, Hydroxymethylbilane | Synthase Deficiencies, Uroporphyrinogen | Synthase Deficiency, Hydroxymethylbilane | Synthase Deficiency, Uroporphyrinogen | Type Porphyrias, Swedish | Type Porphyria, Swedish | UPS Deficiencies | UPS Deficiency | UPS DEFICIENCY PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED | Uroporphyrinogen Synthase Deficiencies | Uroporphyrinogen Synthase Deficiency
Definition 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.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Skin disease
MeSH® ID D017118
OMIM® ID 176000
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1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Porphyria, Acute Intermittent Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Porphyria, Acute Intermittent Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Porphyrias, Hepatic Has associated chemicals Has associated genes Porphyria, Acute Intermittent Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Porphyrias Has associated chemicals Has associated genes Porphyrias, Hepatic Has associated chemicals Has associated genes Porphyria, Acute Intermittent Has associated chemicals Has associated genes

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Porphyria, Acute Intermittent Has associated chemicals Has associated genes
  Porphyria, Acute Intermittent, Nonerythroid Variant