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2775502 
Journal Article 
The Neurological Manifestations of Porphyria: A Review 
Becker, DM; Kramer, US 
1977 
1 
Medicine
ISSN: 0025-7974
EISSN: 1536-5964 
NIOSH/00130042 
56 
5 
411-423 
The clinical, pathological, and biochemical evidence of hereditary hepatic porphyrias is reviewed. Symptoms include abdominal pain, constipation, vomiting, vesical symptoms, tachycardia, hypertension, paresthesias, weakness, and ascending paralysis. Pathological findings include demyelination and axonal degeneration of peripheral and autonomic nerves. Demyelination of cerebral cortex and cerebellum occurs to a lesser extent. Hepatic porphyrias are inherited as autosomal dominants. The heme biosynthetic pathway and the sites blocked in acute intermittent porphyria, porphyria variegata, and hereditary coproporphyria are reviewed. In acute attacks of all three porphyrias, delta-aminolevulinic-acid-synthetase activity is increased. The mechanisms of neuroendocrine manifestations being investigated are a deficit of heme in the nervous system or toxic effect from the overproduction of delta-aminolevulinic-acid (ALA) or porphobilinogen. In-vivo toxicity tests are discussed. Increased ALA urinary excretion in lead (7439921) poisoning and hereditary tyrosinemia are mentioned. Treatment of acute porphyria is discussed; hematin (15489904), sodium-benzoate (532321), and d,l-propranolol (525666) are beneficial.