title: Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment.
abstract: We report a patient with acute intermittent porphyria who presented with progressive motor neuropathy, particularly in the upper limbs. The electrophysiological studies showed an asymmetric motor neuropathy with a prominent involvement of both the radial and left peroneal nerves. During the 1-year follow-up period, 6 courses of hematin infusion, with 150 mg daily for 4 consecutive days every month, were administrated. The motor neuropathy showed a steady and gradual improvement following the hematin treatment. Molecular analysis of the porphobilinogen deaminase gene revealed a short segment deletion (1008-1019delCAGCCTGGCCAA) resulting in a truncated protein. The findings suggest that early hematin treatment is temporally associated with interval improvement of the patient's porphyric motor neuropathy.
authors: Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, University, Taipei, Taiwan.
authors: Hung-Chou
authors: HC
authors: Kuo
authors: Ming-Jen
authors: MJ
authors: Lee
authors: Wen-Li
authors: WL
authors: Chuang
authors: Chin-Chang
authors: CC
authors: Huang
mesh_terms: D000328:Adult; D000622:Aminolevulinic Acid / Q000652:urine; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006427:Hemin / Q000008:administration & dosage*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D016472:Motor Neuron Disease / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000188:drug therapy* / Q000235:genetics; D011115:Polyneuropathies / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D011162:Porphobilinogen / Q000652:urine; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D006427:Hemin; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase