Mercelis R, Hassoun A, Verstraeten L, De Bock R, Martin J J
Department of Neurology, University Hospital of Antwerp, Belgium.
J Neurol Sci. 1990 Jan;95(1):39-47. doi: 10.1016/0022-510x(90)90115-4.
A man without a history of porphyric attacks developed a subacute motor neuropathy at the age of 63. At the same time the first signs of a myeloproliferative disorder were found. He had a homozygous deficiency of erythrocyte delta-aminolevulinic acid dehydratase (ALA-D) with autosomal recessive inheritance. Treatment with parenteral glucose and with hematin had a beneficial influence on the plasma ALA levels. The finding of a motor neuropathy with increased plasma levels of ALA but not of porphobilinogen (PBG) supports the potential role of ALA in the pathogenesis of porphyric neuropathy.
