Literature DB >> 16435207

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

H G M Oude Luttikhuis1, G Touati, D Rabier, M Williams, C Jakobs, J M Saudubray.   

Abstract

Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication.

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 16435207     DOI： 10.1007/s10545-005-4545-1

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


  3 in total

1.  Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

Authors:  K Bartlett; M J Bennett; R P Hill; L S Lashford; R J Pollitt; H G Worth
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 2.  Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Authors:  D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  3 in total
  6 in total

Review 1.  The consequences of extended newborn screening programmes: do we know who needs treatment?

Authors:  B Wilcken
Journal:  J Inherit Metab Dis       Date:  2008-02-22       Impact factor: 4.982

2.  3-Methylcrotonylglycine disrupts mitochondrial energy homeostasis and inhibits synaptic Na(+),K (+)-ATPase activity in brain of young rats.

Authors:  Alana Pimentel Moura; César Augusto João Ribeiro; Ângela Zanatta; Estela Natacha Brandt Busanello; Anelise Miotti Tonin; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2011-10-13       Impact factor: 5.046

3.  Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency.

Authors:  Süleyman Şahin; Miraç Yıldırım; Ömer Bektaş; İlknur Sürücü Kara; Ahmet Cevdet Ceylan; Serap Teber
Journal:  Mol Syndromol       Date:  2021-08-26

4.  3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Authors:  Sarah C Grünert; Martin Stucki; Raphael J Morscher; Terttu Suormala; Celine Bürer; Patricie Burda; Ernst Christensen; Can Ficicioglu; Jürgen Herwig; Stefan Kölker; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Bridget Wilcken; Brian Fowler; Wyatt W Yue; Matthias R Baumgartner
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

5.  Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test.

Authors:  Sun Hee Lee; Yong Hee Hong
Journal:  Korean J Pediatr       Date:  2014-07-23

Review 6.  Hypoglycaemia related to inherited metabolic diseases in adults.

Authors:  Claire Douillard; Karine Mention; Dries Dobbelaere; Jean-Louis Wemeau; Jean-Marie Saudubray; Marie-Christine Vantyghem
Journal:  Orphanet J Rare Dis       Date:  2012-05-15       Impact factor: 4.123
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.