Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult.
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.
Mercelis
R
R
Department of Neurology, University Hospital of Antwerp, Belgium.
Hassoun
A
A
Verstraeten
L
L
De Bock
R
R
Martin
J J
JJ
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*
D000623:Porphobilinogen Synthase