Leucine loading test is only discriminative for 3-methylglutaconic aciduria due to AUH defect

Saskia B. Wortmann, Leo A.J. Kluijtmans, Silvia Sequeira, Ron A. Wevers, Eva Morava

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations

Abstract

Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The “Primary 3-methylglutaconic aciduria,” 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabolism. For all other subtypes, also denoted “Secondary 3-methylglutaconic acidurias” (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, “not otherwise specified (NOS) 3-MGA-uria”), the origin of 3-methylglutaconic aciduria remains enigmatic but is hypothesized to be independent from leucine catabolism. Here we show the results of leucine loading test in 21 patients with different inborn errors of metabolism who present with 3-methylglutaconic aciduria. After leucine loading urinary 3-methylglutaconic acid levels increased only in the patients with an AUH defect. This strongly supports the hypothesis that 3-methylglutaconic aciduria is independent from leucine breakdown in other inborn errors of metabolism with 3-methylglutaconic aciduria and also provides a simple test to discriminate between primary and secondary 3-methylglutaconic aciduria in regular patient care.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages1-6
Number of pages6
DOIs
StatePublished - 2014

Publication series

NameJIMD Reports
Volume16
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Barth syndrome
  • Inborn error
  • Mevalonate kinase deficiency
  • Serum amino acid
  • Urinary organic acid analysis

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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