Literature DB >> 16906473

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

B Merinero1, C Pérez-Cerdá, P Ruiz Sala, I Ferrer, M J García, M Martínez Pardo, A Belanger-Quintana, J L de la Mota, E Martin-Hernández, C Vianey-Saban, C Bischoff, N Gregersen, M Ugarte.   

Abstract

High concentrations of butyryl/isobutyrylcarnitine (C(4)-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differentiate the possible underlying defect. Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.

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Year:  2006        PMID： 16906473     DOI： 10.1007/s10545-006-0342-8

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

1.  Knockout of the murine cysteine dioxygenase gene results in severe impairment in ability to synthesize taurine and an increased catabolism of cysteine to hydrogen sulfide.

Authors:  Iori Ueki; Heather B Roman; Alessandro Valli; Krista Fieselmann; Jimmy Lam; Rachel Peters; Lawrence L Hirschberger; Martha H Stipanuk
Journal:  Am J Physiol Endocrinol Metab       Date:  2011-06-21       Impact factor: 4.310

2.  Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Authors:  A Maguolo; G Rodella; A Dianin; R Nurti; I Monge; E Rigotti; G Cantalupo; L Salviati; S Tucci; F Pellegrini; G Molinaro; F Lupi; P Tonin; A Pasini; N Campostrini; F Ion Popa; F Teofoli; M Vincenzi; M Camilot; G Piacentini; A Bordugo
Journal:  Mol Genet Metab Rep       Date:  2020-08-05

Review 3.  Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Authors:  Valeria Tiranti; Massimo Zeviani
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-01-01       Impact factor: 10.005

4.  Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid.

Authors:  Patrícia Fernanda Schuck; Estela Natacha Brandt Busanello; Alana Pimentel Moura; Anelise Miotti Tonin; Mateus Grings; Luciana Ritter; Carmen Regla Vargas; Gustavo da Costa Ferreira; Moacir Wajner
Journal:  Neurochem Res       Date:  2009-09-16       Impact factor: 3.996

5.  Severe early onset ethylmalonic encephalopathy with West syndrome.

Authors:  Laura Papetti; Giacomo Garone; Livia Schettini; Carla Giordano; Francesco Nicita; Paola Papoff; Massimo Zeviani; Vincenzo Leuzzi; Alberto Spalice
Journal:  Metab Brain Dis       Date:  2015-07-21       Impact factor: 3.584

6.  Cysteine dioxygenase 1 is a tumor suppressor gene silenced by promoter methylation in multiple human cancers.

Authors:  Mariana Brait; Shizhang Ling; Jatin K Nagpal; Xiaofei Chang; Hannah Lui Park; Juna Lee; Jun Okamura; Keishi Yamashita; David Sidransky; Myoung Sook Kim
Journal:  PLoS One       Date:  2012-09-27       Impact factor: 3.240

7.  Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.

Authors:  Xiaohong Chen; Lin Han; Hui Yao
Journal:  Front Genet       Date:  2020-04-17       Impact factor: 4.599

Review 8.  Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Authors:  Signe Mosegaard; Graziana Dipace; Peter Bross; Jasper Carlsen; Niels Gregersen; Rikke Katrine Jentoft Olsen
Journal:  Int J Mol Sci       Date:  2020-05-28       Impact factor: 5.923
  8 in total

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