Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

South African Medical Journal

Volumn 104, Issue 4, 2014, Pages 283-285

  Albertyn, C H ^a   Sonderup, M ^a   Bryer, A ^a   Corrigall, A ^b   Meissner, P ^c   Heckmann, J M ^b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c Division of Neurology Department of Medicine Groote Schuur Hospital and UCT ^*  (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; CREATININE; HEME ARGINATE; PORPHOBILINOGEN; PORPHYRIN; UROPORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROPHYSIOLOGY; FOLLOW UP; GENE MUTATION; HEPATIC PORPHYRIA; HUMAN; MALE; MOTOR NEURON DISEASE; PROGRESSIVE MUSCULAR ATROPHY; YOUNG ADULT;

ARGININE; HEME; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUSCULAR ATROPHY, SPINAL; PORPHYRIA, ACUTE INTERMITTENT; YOUNG ADULT;

EID: 84897140968     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: 10.7196/SAMJ.7785     Document Type: Article

References (13)

1. Albers JW, Fink JK. Porphyric neuropathy. Muscle Nerve 2004;30(4):410-422. [http://dx.doi. org/10.1002/mus.20137]
2. Becker DM, Kramer S. The neurological manifestations of porphyria: A review. Medicine (Baltimore) 1977;56:411-423. [http://dx.doi.org/10.1097/00005792-197709000-00003]
3. Puy H, Gouya L, Deybach J. Porphyrias. Lancet 2010;375(9718):924-937. [http://dx.doi.org/10.1016/ S0140-6736(09)61925-5]
4. Kuo HC, Lee MJ, Chuang WL, Huang CC. Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment. J Neurol Sci 2007;260(1-2):231-235. [http://dx.doi. org/10.1016/j.jns.2007.03.018]
5. Sorensen AWS, With TK. Persistent paresis after porphyric attacks. S Afr Med J 1971;45(Special issue):101-103.
6. Wikberg A, Andersson C, Lithner F. Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000;248(1):27-32. [http://dx.doi.org/10.1046/j.1365- 2796.2000.00697.x]
7. Diot E, Corcia P, Zannad N, Chauvet MA, Borie MJ, Maillot F. Favorable outcome of acute porphyric neuropathy after treatment with haem arginate. Rev Neurol (Paris) 2007;163(11):1100-1102. [http:// dx.doi.org/10.1016/S0035-3787(07)74184-X]
8. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore) 2005;84(1):48-60. [http://dx.doi.org/10.1097/01.md.0000152454.56435.f3]
9. Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: The pathophysiology of acute porphyric neuropathy. Clin Neurophysiol 2011;122(12):2336-2344. [http://dx.doi.org/10.1016/j. clinph.2011.07.036]
10. Demasi M, Penatti CAA, Delucia R, Bechara EJH. The prooxidant effect of 5-aminolevulinic acid in the brain tissue of rats: Implications in neuropsychiatric manifestations in porphyrias. Free Radic Biol Med 1996;20(3):291-299. [http://dx.doi.org/10.1016/0891-5849(95)02035-7]
11. Lin CS, Krishnan AV, Lee MJ, et al. Nerve function and dysfunction in acute intermittent porphyria. Brain 2008;131(9):2510-2519. [http://dx.doi.org/10.1093/brain/awn152]
12. Gorchein A, Webber R. Delta-aminolevulinic acid in plasma, cerebrospinal fluid, saliva and erythrocytes: Studies in normal, uraemic and porphyric subjects. Clin Sci 1987;72(1):103-112.
13. Robreau-Fraolini AM, Puy H, Aquaron C, et al. Porphobilinogen deaminase gene in African and Afro- Carribbean ethnic groups: Mutations causing acute intermittent porphyria and specific intragenic polymorphisms. Hum Genet 2000;107(2):150-159. [http://dx.doi.org/10.1007/s004390000323]