Studies in Porphyria I: Characterization of Enzyme Defects
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | November 1992 |
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and
their family members.
II. Determine whether selected patients are eligible for other porphyria research protocols.
III. Provide blood, urine, and fecal samples from well characterized patients and their
family members to investigators studying the nature of specific mutations in genes for heme
biosynthetic pathway enzymes.
their family members.
II. Determine whether selected patients are eligible for other porphyria research protocols.
III. Provide blood, urine, and fecal samples from well characterized patients and their
family members to investigators studying the nature of specific mutations in genes for heme
biosynthetic pathway enzymes.
PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to
the clinical expression of their particular form of the disease. Testing includes
erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and
urinary and fecal porphyrins and precursors.
Selected patients are entered into other porphyrin research protocols in this and other
institutions, including analysis of DNA to identify specific mutations in genes for heme
biosynthetic pathway enzymes.
the clinical expression of their particular form of the disease. Testing includes
erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and
urinary and fecal porphyrins and precursors.
Selected patients are entered into other porphyrin research protocols in this and other
institutions, including analysis of DNA to identify specific mutations in genes for heme
biosynthetic pathway enzymes.
- Suspected or confirmed porphyria
- Adults, children, and family members eligible
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