Literature DB >> 8496750

Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion.

C Theda1, R C Woody, S Naidu, A B Moser, H W Moser.   

Abstract

We found an elevation of very long chain fatty acids in 13 of 22 plasma samples from patients on a ketogenic diet for the treatment of uncontrolled seizures. Because elevated values of very long chain fatty acids are a biochemical manifestation of peroxisomal dysfunction, this phenomenon might lead to diagnostic confusion. Thus the history and clinical status should be considered when plasma levels of very long chain fatty acids are interpreted.

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Year:  1993        PMID： 8496750     DOI： 10.1016/s0022-3476(06)80013-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

Review 1.  Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Authors:  Nancy E Braverman; Gerald V Raymond; William B Rizzo; Ann B Moser; Mark E Wilkinson; Edwin M Stone; Steven J Steinberg; Michael F Wangler; Eric T Rush; Joseph G Hacia; Mousumi Bose
Journal:  Mol Genet Metab       Date:  2015-12-23       Impact factor: 4.797

Review 2.  The Changing Face of Adrenoleukodystrophy.

Authors:  Jia Zhu; Florian Eichler; Alessandra Biffi; Christine N Duncan; David A Williams; Joseph A Majzoub
Journal:  Endocr Rev       Date:  2020-08-01       Impact factor: 19.871

3.  Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Authors:  David Cheillan
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

4.  Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

Authors:  Yanmin Wang; Guoli Tian; Wei Ji; Simei Wang; Xiaofen Zhang
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2021-08-25

5.  The impact of a ketogenic diet and liver dysfunction on serum very long-chain fatty acids levels.

Authors:  T J Stradomska; M Bachański; J Pawłowska; M Syczewska; A Stolarczyk; A Tylki-Szymańska
Journal:  Lipids       Date:  2013-01-31       Impact factor: 1.880

6.  X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Authors:  Marc Engelen; Stephan Kemp; Marianne de Visser; Björn M van Geel; Ronald J A Wanders; Patrick Aubourg; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2012-08-13       Impact factor: 4.123

7.  False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency.

Authors:  Jia Zhu; David T Breault
Journal:  J Pediatr Endocrinol Metab       Date:  2020-12-14       Impact factor: 1.520

Review 8.  ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.

Authors:  Alyssa M Volmrich; Lauren M Cuénant; Irman Forghani; Sharon L Hsieh; Lauren T Shapiro
Journal:  Appl Clin Genet       Date:  2022-08-12

9.  The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Authors:  Malena Daich Varela; Priyam Jani; Wadih M Zein; Precilla D'Souza; Lynne Wolfe; Jennifer Chisholm; Christopher Zalewski; David Adams; Blake M Warner; Laryssa A Huryn; Robert B Hufnagel
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-08-31       Impact factor: 3.359

Review 10.  The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Authors:  Sacha Ferdinandusse; Merel S Ebberink; Frédéric M Vaz; Hans R Waterham; Ronald J A Wanders
Journal:  J Inherit Metab Dis       Date:  2016-03-04       Impact factor: 4.982
  10 in total

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