Kuo H.-C.MING-JEN LEEChuang W.-L.Huang C.-C.2020-11-032020-11-0320070022-510Xhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-34547689022&doi=10.1016%2fj.jns.2007.03.018&partnerID=40&md5=79715d91a9587e63f7ed5eac9670d8efhttps://scholars.lib.ntu.edu.tw/handle/123456789/519578We 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. ? 2007 Elsevier B.V. All rights reserved.[SDGs]SDG3hematin; porphobilinogen; porphobilinogen deaminase; abdominal distension; acute intermittent porphyria; adult; arm weakness; article; case report; clinical feature; constipation; drug effect; drug efficacy; drug infusion; dysphonia; electromyogram; female; follow up; gene deletion; human; hyponatremia; hypothermia; motor neuropathy; multiple cycle treatment; muscle weakness; nucleotide sequence; outcome assessment; peripheral neuropathy; peroneus nerve; priority journal; radial nerve; symptom; Adult; Aminolevulinic Acid; DNA Mutational Analysis; Female; Follow-Up Studies; Genetic Markers; Genetic Predisposition to Disease; Hemin; Humans; Hydroxymethylbilane Synthase; Motor Neuron Disease; Mutation; Pedigree; Peripheral Nervous System Diseases; Polyneuropathies; Porphobilinogen; Porphyria, Acute Intermittent; Treatment Outcomejournal article10.1016/j.jns.2007.03.018174594182-s2.0-34547689022