Porphyrin enzyme analysis in an oral pathology practice: a look back over four years.
The porphyrias are defined by specific enzymes having diminished activity. More enzymes have become available for routine testing. Measurement of urine and stool porphyrin and porphyrin precursor elevations are important, but in many instances are not found or found in confusing patterns. The use of enzyme analysis can often be helpful in identifying those patients with a genetically diminished enzyme activity level. Looking back over the last four years, modifications in evaluating patients for porphyria were developed and are related in this article. In 91 patients, patterns of enzyme deficiencies were seen that have been observed by others; however, new observations have been made. While many of the enzymes in the porphyrin pathway are available for testing, others need to come on line as soon as possible, particularly protoporphyrinogen oxidase.
Downey
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D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers; D002648:Child; D004796:Clinical Enzyme Tests; D003304:Coproporphyrinogen Oxidase / Q000378:metabolism; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D000623:Porphobilinogen Synthase / Q000378:metabolism; D011164:Porphyrias / Q000145:classification / Q000175:diagnosis* / Q000201:enzymology; D011166:Porphyrins / Q000378:metabolism*; D014575:Uroporphyrinogen Decarboxylase / Q000378:metabolism
D015415:Biomarkers; D011166:Porphyrins; D003304:Coproporphyrinogen Oxidase; D011163:Hydroxymethylbilane Synthase; D014575:Uroporphyrinogen Decarboxylase; D000623:Porphobilinogen Synthase