Posts Categorized: Part 09: ORGANIC ACIDS

Sudden Bilateral Vision Loss in Methylmalonic Acidemia

Posted by & filed under Part 09: ORGANIC ACIDS.

A recent case report by Traber et al in the Journal of Neuroopthalmology (August 25, 2011 Epub) describes an adult patient with methylmalonic acidemia (MMA) and sudden onset of bilateral vision loss with optic atrophy.  This may not be commonly though of as a frequent adult complication of MMA. However, this sudden onset of vision loss has been described before in adults […]

Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.

Posted by & filed under Part 09: ORGANIC ACIDS, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Treatment.

Pediatr Neurol. 2007 Jul;37(1):47-50. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.   In this paper, the authors describe a patient with HMG-CoA Lyase deficiency. He initially presented at 8 months with seizures during a gastroenteritis; he had hepatomegaly and elevated […]

Liver transplantation for inborn errors of metabolism

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 08: AMINO ACIDS, Part 09: ORGANIC ACIDS.

This articles provides an overview and discussion on an important area of the treatment of inborn errors of metabolism. Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Liver transplantation for inborn errors of metabolism. Meyburg J, Hoffmann GF.   Thank you very much in advance for your contributions to this blog (Click on login to register and post […]