Literature DB >> 9120442

The little imitator--porphyria: a neuropsychiatric disorder.

H L Crimlisk1.   

Abstract

Three common subtypes of porphyria give rise to neuropsychiatric disorders; acute intermittent porphyria, variegate porphyria, and coproporphyria. The second two also give rise to cutaneous symptoms. Neurological or psychiatric symptoms occur in most acute attacks, and may mimic many other disorders. The diagnosis may be missed because it is not even considered or because of technical problems, such as sample collection and storage, and interpretation of results. A negative screening test does not exclude the diagnosis. Porphyria may be overrepresented in psychiatric populations, but the lack of control groups makes this uncertain. The management of patients with porphyria and psychiatric symptoms causes considerable problems. Three cases are described to illustrate some of these issues. Advances in molecular biology permit identification of patients and latent carriers in the family. Care to avoid relapses and improved treatments have reduced the mortality.

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Year:  1997        PMID: 9120442      PMCID: PMC1074085          DOI: 10.1136/jnnp.62.4.319

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  63 in total

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Journal:  Med J Aust       Date:  1992-03-02       Impact factor: 7.738

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Authors:  H L Bonkovsky
Journal:  Gastroenterology       Date:  1993-08       Impact factor: 22.682

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Authors:  M W Mandoki; G S Sumner
Journal:  J Nerv Ment Dis       Date:  1994-02       Impact factor: 2.254

Review 7.  Variable phenotypic expression of genotypic abnormalities in the porphyrias.

Authors:  J T Hindmarsh
Journal:  Clin Chim Acta       Date:  1993-07-30       Impact factor: 3.786

8.  Early administration of heme arginate for acute porphyric attacks.

Authors:  P Mustajoki; Y Nordmann
Journal:  Arch Intern Med       Date:  1993-09-13

9.  Acute intermittent porphyria and mental illness--a family study.

Authors:  D A Patience; D H Blackwood; K E McColl; M R Moore
Journal:  Acta Psychiatr Scand       Date:  1994-04       Impact factor: 6.392

10.  Markers for vulnerability in acute porphyria. A hypothesis paper.

Authors:  S Thunell; C Andersson; B Carlmark; Y Floderus; S O Grönqvist; P Harper; A Henrichson; U Lindh
Journal:  Eur J Clin Chem Clin Biochem       Date:  1995-04
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  28 in total

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2.  [Acute intermittent porphyria. A clinical chameleon: case study of a 40-year-old female patient].

Authors:  M Zimmermann; C Bonaccurso; C Valerius; G F Hamann
Journal:  Nervenarzt       Date:  2006-12       Impact factor: 1.214

3.  Secondary coproporphyrinuria in a patient with the full clinical picture of a hereditary acute hepatic porphyria. A misleading clinical and biochemical course.

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4.  Anxiety and depression in the acute porphyrias.

Authors:  L M Millward; P Kelly; A King; T J Peters
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

5.  The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine.

Authors:  Paolo Ventura; Maria Domenica Cappellini; Emilio Rocchi
Journal:  Intern Emerg Med       Date:  2009-05-29       Impact factor: 3.397

6.  Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases.

Authors:  A S Winkler; T J Peters; R D C Elwes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-03       Impact factor: 10.154

7.  Self-rated psychosocial consequences and quality of life in the acute porphyrias.

Authors:  L M Millward; P Kelly; A Deacon; V Senior; T J Peters
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

8.  Circadian rhythms in acute intermittent porphyria--a pilot study.

Authors:  Sebastian Larion; Frederick R Caballes; Sun-Il Hwang; Jin-Gyun Lee; Whitney E Rossman; Judy Parsons; Nury Steuerwald; Ting Li; Vinaya Maddukuri; Gale Groseclose; Carla V Finkielstein; Herbert L Bonkovsky
Journal:  Eur J Clin Invest       Date:  2013-05-08       Impact factor: 4.686

Review 9.  Peripheral neuropathy and inborn errors of metabolism in adults.

Authors:  F Sedel; C Barnerias; O Dubourg; I Desguerres; O Lyon-Caen; Jean-Marie Saudubray
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Review 10.  Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; I Gourfinkel-An; O Lyon-Caen; M Baulac; J-M Saudubray; V Navarro
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

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