American Journal of Nephrology
Case Report
Carnitine Palmitoyltransferase Deficiency: An Underdiagnosed Condition?Katzir Z.a · Hochman B.a · Biro A.a · Rubinger D.I.c · Feigel D.b · Silver J.c · Friedlaender M.M.c · Popovtzer M.M.c · Smetana S.aaNephrology and Hypertension Unit, and bDepartment of Medicine ‘D’, E. Wolfson Medical Center, Holon, cNephrology and Hypertension Services, Division of Internal Medicine, Hadassah University Hospital, Jerusalem, Israel
|
|
Log in to MyKarger to check if you already have access to this content.
KAB
Buy a Karger Article Bundle (KAB) and profit from a discount!
If you would like to redeem your KAB credit, please log in.
Save over 20% compared to the individual article price.
Article / Publication Details
Received: September 07, 1994
Accepted: April 18, 1995
Published online: October 28, 2008
Issue release date: 1996
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0
ISSN: 0250-8095 (Print)
eISSN: 1421-9670 (Online)
For additional information: https://www.karger.com/AJN
Abstract
Two apparently healthy adults were admitted because of acute muscle cramps, severe weakness, and red urine excretion. Patient No. 1 developed the symptoms following intense exercise and patient No. 2 during a febrile infection. Both of them experienced such episodes in the past, but these were medically misinterpreted. Their present manifestations were accompanied by renal failure which subsided gradually and was found to be a result of rhabdomyolsis and myoglobinuria. Further investigations yielded a deficiency of carnitine palmitoyltransferase as a background to the acute muscular destruction. Examination of a sister of patient No. 2 who had a similar past history revealed the same metabolic disorder. Carnitine palmitoyltransferase deficiency, as a cause of nontraumatic rhabdomyolysis, is a distinct entity in the pathogenesis of acute renal failure. Our experience (3 patients within 2 years) makes us presume that this condition is not as rare as hitherto reported and should rather be considered in cases of ‘nonhematuric’ red urine and acute renal failure.
© 1996 S. Karger AG, Basel
Related Articles:
Article / Publication Details
Received: September 07, 1994
Accepted: April 18, 1995
Published online: October 28, 2008
Issue release date: 1996
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0
ISSN: 0250-8095 (Print)
eISSN: 1421-9670 (Online)
For additional information: https://www.karger.com/AJN
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

Get Permission