Literature DB >> 8259873

Malonyl coenzyme A decarboxylase deficiency.

G B MacPhee1, R W Logan, J S Mitchell, D W Howells, E Tsotsis, D R Thorburn.   

Abstract

Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency are described. Hitherto, the worldwide experience of the disorder has been confined to reports on two affected Australian children. The new cases are Scots born and are the offspring of consanguinous parents of Scots/Irish origin. They were investigated during episodes of vomiting and febrile convulsions associated with concomitant developmental delay. Malonic aciduria and grossly reduced malonyl CoA decarboxylase activity were demonstrated and the total ion current chromatograms of urinary organic acid profiles obtained by gas chromatography-mass spectrometry are presented. The clinical and biochemical features of the Scots and Australian patients are compared.

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Year:  1993        PMID： 8259873      PMCID： PMC1029550          DOI： 10.1136/adc.69.4.433

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Molecular cloning, nucleotide sequence, and tissue distribution of malonyl-CoA decarboxylase.

Authors:  S H Jang; T M Cheesbrough; P E Kolattukudy
Journal:  J Biol Chem       Date:  1989-02-25       Impact factor: 5.157

2.  A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.

Authors:  A K Bhuiyan; N J Watmough; D M Turnbull; A Aynsley-Green; J V Leonard; K Bartlett
Journal:  Clin Chim Acta       Date:  1987-05-29       Impact factor: 3.786

Review 3.  Regulation of hepatic fatty acid oxidation and ketone body production.

Authors:  J D McGarry; D W Foster
Journal:  Annu Rev Biochem       Date:  1980       Impact factor: 23.643

4.  Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds.

Authors:  K Tanaka; D G Hine; A West-Dull; T B Lynn
Journal:  Clin Chem       Date:  1980-12       Impact factor: 8.327

5.  Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias.

Authors:  K Tanaka; A West-Dull; D G Hine; T B Lynn; T Lowe
Journal:  Clin Chem       Date:  1980-12       Impact factor: 8.327

6.  Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect.

Authors:  E A Haan; R D Scholem; H B Croll; G K Brown
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  6 in total
  11 in total

1.  Cloning and expression of rat pancreatic beta-cell malonyl-CoA decarboxylase.

Authors:  N Voilley; R Roduit; R Vicaretti; C Bonny; G Waeber; J R Dyck; G D Lopaschuk; M Prentki
Journal:  Biochem J       Date:  1999-05-15       Impact factor: 3.857

2.  The first identification of lysine malonylation substrates and its regulatory enzyme.

Authors:  Chao Peng; Zhike Lu; Zhongyu Xie; Zhongyi Cheng; Yue Chen; Minjia Tan; Hao Luo; Yi Zhang; Wendy He; Ke Yang; Bernadette M M Zwaans; Daniel Tishkoff; Linh Ho; David Lombard; Tong-Chuan He; Junbiao Dai; Eric Verdin; Yang Ye; Yingming Zhao
Journal:  Mol Cell Proteomics       Date:  2011-09-09       Impact factor: 5.911

3.  Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.

Authors:  Chandra Shekar R Ambati; Furong Yuan; Lutfi A Abu-Elheiga; Yiqing Zhang; Vivekananda Shetty
Journal:  J Am Soc Mass Spectrom       Date:  2017-03-17       Impact factor: 3.109

4.  Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

Authors:  M Podell; G D Shelton; W L Nyhan; S O Wagner; A Genders; M Oglesbee; W R Fenner
Journal:  Metab Brain Dis       Date:  1996-09       Impact factor: 3.584

5.  The molecular basis of malonyl-CoA decarboxylase deficiency.

Authors:  D R FitzPatrick; A Hill; J L Tolmie; D R Thorburn; J Christodoulou
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

6.  Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

Authors:  D P O'Brien; B A Barshop; K K Faunt; G C Johnson; K M Gibson; G D Shelton
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

7.  Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.

Authors:  C Ficicioglu; M R K Chrisant; I Payan; D H Chace
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

8.  Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

Authors:  A R Gregg; A W Warman; D R Thorburn; W E O'Brien
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  Highly sensitive quantification of serum malonate, a possible marker for de novo lipogenesis, by LC-ESI-MS/MS.

Authors:  Akira Honda; Kouwa Yamashita; Tadashi Ikegami; Takashi Hara; Teruo Miyazaki; Takeshi Hirayama; Mitsuteru Numazawa; Yasushi Matsuzaki
Journal:  J Lipid Res       Date:  2009-04-29       Impact factor: 5.922

10.  Intrastriatal malonate administration induces convulsive behaviour in rats.

Authors:  J Fleck; M C P Ribeiro; C M Schneider; V D G Sinhorin; M A Rubin; C F Mello
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
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