title: Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult.
abstract: 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.
authors.affiliation: Department of Neurology, University Hospital of Antwerp, Belgium.
authors.forename: R
authors.initials: R
authors.lastname: Mercelis
authors.forename: A
authors.initials: A
authors.lastname: Hassoun
authors.forename: L
authors.initials: L
authors.lastname: Verstraeten
authors.forename: R
authors.initials: R
authors.lastname: De Bock
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
mesh_terms: D030342:Genetic Diseases, Inborn / Q000201:enzymology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology*; D009468:Neuromuscular Diseases / Q000201:enzymology* / Q000209:etiology; D000623:Porphobilinogen Synthase / Q000172:deficiency* / Q000235:genetics; D011164:Porphyrias / Q000150:complications*
chemical_list: D000623:Porphobilinogen Synthase