Biomaterial Database

[A case of acute intermittent porphyria]. 1997

K R Nielsen

Medicinsk afdeling, Landssygehuset, Tórshavn.

A case of an acute attack of porphyria acuta intermittens is presented. A patient was admitted with severe abdominal pain and hypertension. He had excessive excretion of porphobilinogen (PBG) and aminolaevulinicacid (ALA) in the urine and a reduced activity of ery-PBG deaminase (PBGD). The patient was not aware that he was a member of a large "porphyria-family". DNA-analysis showed that he had a hitherto underscribed G to A mutation. This paper shows: 1) The importance of family studies: 2) The risk of developing neurogenic attacks among gene carriers if exposed to precipitating factors. 3) The significance of having the diagnosis of porphyria in mind in every uncertain case of abdominal pain, progressive paresis and psychiatric disease.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017118	Porphyria, Acute Intermittent	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.	Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,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,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies