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- The OMMBID Blog » archive for 'Part 09: ORGANIC ACIDS'
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Sudden Bilateral Vision Loss in Methylmalonic Acidemia
- September 2nd, 2011
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 with methylmalonic acidemia (MMA) and propionic acidemia (MMA). The largest cohort reported includes 2 adults with MMA and one adult with PA by Williams et al, in the American Journal of Ophthalmology (2009) 147(5): 929-33.
Hilary Vernon, MD PhD
DOI Reference Number : http://dx.doi.org/10.1036/ommbid.121
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Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.
- December 19th, 2007
Pediatr Neurol. 2007 Jul;37(1):47-50.
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 enzymes. Urine organic acids and plasma acylcarnitine profile were consistent with 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency. White matter changes were noted, but these normalized with initiation of a leucine-restricted diet. 12 months later, he was developmentaly normal.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Liver transplantation for inborn errors of metabolism
- October 23rd, 2006
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.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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