Many pitfalls in diagnosis of acute intermittent porphyria: a case report

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

Abstract Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms. Case presentation We report a case of 33-y...

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Main Authors: N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Research Notes
Subjects:
Acute intermittent porphyria
Acute porphyria
Hydroxymethylbilane synthase
Misdiagnosis
Porphobilinogen
Mutation analysis
Online Access:http://link.springer.com/article/10.1186/s13104-018-3615-z

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