Literature DB >> 3813501

Dicarboxylic aciduria in an infant with spinal muscular atrophy.

R I Kelley, J T Sladky.   

Abstract

A 1-year-old infant with classic Werdnig-Hoffmann disease was found to excrete abnormally large amounts of dicarboxylic acids in both fed and fasting states, with especially notable increases in the longer-chain (C10 and C12) 3-hydroxydicarboxylic acids. Dicarboxylic aciduria has not previously been associated with Werdnig-Hoffmann disease and suggests a primary or secondary defect of fatty acid metabolism in the disorder.

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Year:  1986        PMID： 3813501     DOI： 10.1002/ana.410200615

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  9 in total

1.  Motor neuron mitochondrial dysfunction in spinal muscular atrophy.

Authors:  Nimrod Miller; Han Shi; Aaron S Zelikovich; Yong-Chao Ma
Journal:  Hum Mol Genet       Date:  2016-08-03       Impact factor: 6.150

2.  Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Authors:  E Bertini; C Dionisi-Vici; B Garavaglia; A B Burlina; M Sabatelli; M Rimoldi; A Bartuli; G Sabetta; S DiDonato
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

3.  Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I.

Authors:  Katherine E Poruk; Rebecca Hurst Davis; Abby L Smart; Benjamin S Chisum; Bernie A Lasalle; Gary M Chan; Gurmail Gill; Sandra P Reyna; Kathryn J Swoboda
Journal:  Neuromuscul Disord       Date:  2012-07-23       Impact factor: 4.296

Review 4.  Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.

Authors:  Natalia N Singh; Shaine Hoffman; Prabhakara P Reddi; Ravindra N Singh
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2021-01-05       Impact factor: 5.187

5.  Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.

Authors:  Marc-Olivier Deguise; Giovanni Baranello; Chiara Mastella; Ariane Beauvais; Jean Michaud; Alessandro Leone; Ramona De Amicis; Alberto Battezzati; Christopher Dunham; Kathryn Selby; Jodi Warman Chardon; Hugh J McMillan; Yu-Ting Huang; Natalie L Courtney; Alannah J Mole; Sabrina Kubinski; Peter Claus; Lyndsay M Murray; Melissa Bowerman; Thomas H Gillingwater; Simona Bertoli; Simon H Parson; Rashmi Kothary
Journal:  Ann Clin Transl Neurol       Date:  2019-07-26       Impact factor: 4.511

6.  Low fat diets increase survival of a mouse model of spinal muscular atrophy.

Authors:  Marc-Olivier Deguise; Lucia Chehade; Alexandra Tierney; Ariane Beauvais; Rashmi Kothary
Journal:  Ann Clin Transl Neurol       Date:  2019-10-13       Impact factor: 4.511

Review 7.  Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Authors:  Yang-Jean Li; Tai-Heng Chen; Yan-Zhang Wu; Yung-Hao Tseng
Journal:  Nutrients       Date:  2020-12-16       Impact factor: 5.717

8.  Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy.

Authors:  Marc-Olivier Deguise; Yves De Repentigny; Alexandra Tierney; Ariane Beauvais; Jean Michaud; Lucia Chehade; Mohamed Thabet; Brittany Paul; Aoife Reilly; Sabrina Gagnon; Jean-Marc Renaud; Rashmi Kothary
Journal:  EBioMedicine       Date:  2020-04-24       Impact factor: 8.143

Review 9.  Metabolic Dysfunction in Spinal Muscular Atrophy.

Authors:  Marc-Olivier Deguise; Lucia Chehade; Rashmi Kothary
Journal:  Int J Mol Sci       Date:  2021-05-31       Impact factor: 5.923
  9 in total

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