0

The full content of Annals is available to subscribers

Subscribe/Learn More  >
Articles |

Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria

PERTTl MUSTAJOKI, M.D.
[+] Article and Author Information

Grant support: in part by a grant from the Orion Corporation Research Foundation.

▸Requests for reprints should be addressed to Pertti Mustajoki, M.D.; University Central Hospital, Third Department of Medicine; 00290 Helsinki 29, Finland.


Helsinki, Finland


© 1981 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1981;95(2):162-166. doi:10.7326/0003-4819-95-2-162
Text Size: A A A

The diagnosis of acute intermittent porphyria was made in 10 members of a large kindred because of increased excretion of porphobilinogen and δ-aminolevulinic acid in the urine but normal fecal porphyrins. Erythrocyte uroporphyrinogen I synthase activity was normal in all nine subjects in whom it was measured. No hematologic or other cause was found that could secondarily have raised low activity to normal, suggesting that the Porphyric subjects may have had no enzyme abnormality in their erythrocytes. On the other hand, in 49 other Finnish patients with acute intermittent porphyria who were unrelated to the kindred, erythrocyte uroporphyrinogen I synthase activity was low. In acute intermittent porphyria there may be two variants, in one of which the enzyme defect is not expressed in the erythrocytes.

Figures

Tables

References

Letters

NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Comments

Submit a Comment
Submit a Comment

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.

Toolkit

Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Advertisement
Related Articles
Topic Collections
PubMed Articles
Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.
(Required)
(Required)