Clinical Aspects of Importance in the Porphyrias

Neurological and biochemical studies have been performed on four AIP families with 21 members. Five patients suffered from manifested AIP (Uroporphyrinogen Synthase defect and characteristic urine findings); among their relatives five persons with latent AIP were detected and eight carriers of the genetic-enzymic defect (Uroporphyrinogen Synthase defect). Internal and neurological symptoms could be interpreted as a panneuropathy. Acute and chronical polyneuropathies could be observed as well as myelopathies and cerebral co-reactions. A frequent symptom dominating the crisis and the latent state of AIP were etiologically abscure 'myalgias.' The character of the course of AIP is various and dubious: beyond the 'classical' courses with its intermittent porphyric crises we observed one case which was characterized by a permanent crisis and a second case marked by a chronical, slow progredient course without any porphyric attacks.

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Clinical Aspects of Importance in the Porphyrias

Cited by 13 publications

References 29 publications

Ocular Involvement in Cutaneous Porphyria

Ocular Involvement in Cutaneous Porphyria

The Clinical Chemistry of Variegate Porphyria with Special Reference to the Identification of a New Plasma-Marker Porphyrin

Zur Diagnostik der akuten intermittierenden Porphyrie: Ergebnisse neurologischer, biochemischer und genetischer Untersuchungen

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