Literature DB >> 8804337

Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.

E Treacy1, L Arbour, P Chessex, G Graham, L Kasprzak, K Casey, L Bell, O Mamer, C R Scriver.   

Abstract

A 7-year-old boy with deficient activity of methylmalonyl coenzyme A mutase (mut-methylmalonic acidemia) was seen in severe metabolic crisis. After hemodialysis and clearance of toxic metabolites, severe lactic acidosis persisted with multiorgan failure. Glutathione deficiency was noted and high-dose ascorbate therapy (120 mg/kg) commenced. Glutathione deficiency may contribute to the lactic acidosis observed during decompensation in patients with methylmalonic acidemia.

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Year:  1996        PMID： 8804337     DOI： 10.1016/s0022-3476(96)70080-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  14 in total

Review 1.  Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.

Authors:  Daniela R Melo; Alicia J Kowaltowski; Moacir Wajner; Roger F Castilho
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

Review 2.  Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia.

Authors:  Steven Yannicelli
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

3.  Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats.

Authors:  Carolina Gonçalves Fernandes; Clarissa Günther Borges; Bianca Seminotti; Alexandre Umpierrez Amaral; Lisiane Aurélio Knebel; Paula Eichler; Anderson Büker de Oliveira; Guilhian Leipnitz; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2011-03-22       Impact factor: 5.046

4.  Methylmalonic Acid Impairs Cell Respiration and Glutamate Uptake in C6 Rat Glioma Cells: Implications for Methylmalonic Acidemia.

Authors:  Renata T Costa; Marcella B Santos; Carlos Alberto-Silva; Daniel C Carrettiero; César A J Ribeiro
Journal:  Cell Mol Neurobiol       Date:  2022-06-08       Impact factor: 5.046

Review 5.  Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Authors:  Kathryn M Camp; Danuta Krotoski; Melissa A Parisi; Katrina A Gwinn; Bruce H Cohen; Christine S Cox; Gregory M Enns; Marni J Falk; Amy C Goldstein; Rashmi Gopal-Srivastava; Gráinne S Gorman; Stephen P Hersh; Michio Hirano; Freddie Ann Hoffman; Amel Karaa; Erin L MacLeod; Robert McFarland; Charles Mohan; Andrew E Mulberg; Joanne C Odenkirchen; Sumit Parikh; Patricia J Rutherford; Shawne K Suggs-Anderson; W H Wilson Tang; Jerry Vockley; Lynne A Wolfe; Steven Yannicelli; Philip E Yeske; Paul M Coates
Journal:  Mol Genet Metab       Date:  2016-09-20       Impact factor: 4.797

6.  Mitochondrial dysfunction in mut methylmalonic acidemia.

Authors:  Randy J Chandler; Patricia M Zerfas; Sara Shanske; Jennifer Sloan; Victoria Hoffmann; Salvatore DiMauro; Charles P Venditti
Journal:  FASEB J       Date:  2008-12-16       Impact factor: 5.191

7.  Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.

Authors:  Kondala R Atkuri; Tina M Cowan; Tony Kwan; Angelina Ng; Leonard A Herzenberg; Leonore A Herzenberg; Gregory M Enns
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-17       Impact factor: 11.205

8.  Predicting the impact of diet and enzymopathies on human small intestinal epithelial cells.

Authors:  Swagatika Sahoo; Ines Thiele
Journal:  Hum Mol Genet       Date:  2013-03-13       Impact factor: 6.150

Review 9.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123

10.  HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Authors:  Sacha Ferdinandusse; Hans R Waterham; Simon J R Heales; Garry K Brown; Iain P Hargreaves; Jan-Willem Taanman; Roxana Gunny; Lara Abulhoul; Ronald J A Wanders; Peter T Clayton; James V Leonard; Shamima Rahman
Journal:  Orphanet J Rare Dis       Date:  2013-12-04       Impact factor: 4.123
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