[Porphyria variegata--the first case in Norway]. 1990

S Sandberg, and A Brun, and S Larsen, and A Nyfors, and B Nyfors
Laboratorium for klinisk biokjemi, Haukeland sykehus, Bergen.

In Norway, the most common porphyrias are acute intermittent porphyria and porphyria cutanea tarda. We describe the first case of porphyria variegata in this country. The patient showed symptoms of the skin and had no abdominal discomfort. Her family was also evaluated and two other persons were found with suspected latent porphyria variegata. We discuss the main symptoms of this type of porphyria and the possibilities of treatment. We emphasize that examination of porphyrins in the feces of patients with porphyria variegata is essential for the diagnosis.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009664 Norway A country located in northern Europe, bordering the North Sea and the Atlantic Ocean, west of Sweden. The capital is Oslo. Kingdom of Norway
D011164 Porphyrias 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. Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012871 Skin Diseases Diseases involving the DERMIS or EPIDERMIS. Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease

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