Literature DB >> 17301002

ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.

Hironori Kobayashi1, Yuki Hasegawa, Mitsuru Endo, Jamiyan Purevsuren, Seiji Yamaguchi.   

Abstract

Acylcarnitines in urine from 45 patients with organic acidemias and fatty acid oxidation disorders were evaluated using ESI-MS/MS. The urinary acylcarnitine profiles in organic acidemias, SCAD deficiency and MCAD deficiency were compatible with blood acylcarnitine profiles, and abnormalities in urinary acylcarnitine profiles in these conditions were enhanced following carnitine loading. Urinary acylcarnitine profiles were not helpful for characterization of long-chain fatty acid disorders, but a combination of urine and blood acylcarnitine analysis was useful for differential diagnosis of carnitine deficit.

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Year:  2007        PMID： 17301002     DOI： 10.1016/j.jchromb.2006.12.010

Source DB:  PubMed          Journal:  J Chromatogr B Analyt Technol Biomed Life Sci        ISSN： 1570-0232            Impact factor:   3.205


  6 in total

1.  Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Authors:  M L Couce; D E Castiñeiras; J D Moure; J A Cocho; P Sánchez-Pintos; J García-Villoria; D Quelhas; N Gregersen; B S Andresen; A Ribes; J M Fraga
Journal:  JIMD Rep       Date:  2011-06-25

2.  The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.

Authors:  Jamiyan Purevsuren; Baasandai Bolormaa; Chogdon Narantsetseg; Renchindorj Batsolongo; Ochirbat Enkhchimeg; Munkhuu Bayalag; Yuki Hasegawa; Haruo Shintaku
Journal:  Mol Genet Metab Rep       Date:  2016-10-28

3.  A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.

Authors:  Ryosuke Bo; Yuki Hasegawa; Kenji Yamada; Hironori Kobayashi; Takeshi Taketani; Seiji Fukuda; Seiji Yamaguchi
Journal:  Mol Genet Metab Rep       Date:  2015-12-05

4.  Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Authors:  Daiju Oba; Shin-Ichi Inoue; Sachiko Miyagawa-Tomita; Yasumi Nakashima; Tetsuya Niihori; Seiji Yamaguchi; Yoichi Matsubara; Yoko Aoki
Journal:  EBioMedicine       Date:  2017-12-06       Impact factor: 8.143

5.  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Marcus J Miller; Kristina Cusmano-Ozog; Devin Oglesbee; Sarah Young
Journal:  Genet Med       Date:  2020-10-19       Impact factor: 8.822

6.  1H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies.

Authors:  Ninna Pulido; Johana M Guevara-Morales; Alexander Rodriguez-López; Álvaro Pulido; Jhon Díaz; Ru Angelie Edrada-Ebel; Olga Y Echeverri-Peña
Journal:  Metabolites       Date:  2021-12-20
  6 in total

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