Identifier |
20160301_nanos_posters_128 |
Title |
Optic Atrophy in Classical Methylmalonic Acidemia (.pdf) |
Creator |
Joyce N. Mbekeani, Hachemi Nezzar, Ola Al Ali, Zahra Al Sahlawi, Abdelmoniem Eldali, Mohammed Al Owain |
Subject |
Optic Atrophy, Methylmalonic Acidemia, Chronic Renal Failure |
Description |
"Methylmalonic acidemia (MMA) is an autosomal recessive, metabolic failure to process various amino acids and lipids. Classical MMA results in methylmalonyl CoA mutase deficiency, preventing the vitamin B12-dependent conversion of methylmalonyl CoA to succinyl CoA, required in Krebs cycle. Patients typically present in early infancy with lethargy and failure to thrive. Long-term complications include renal failure (CRF) and encephalopathy. Only 4 cases of optic atrophy (OA) have been reported. With improved survival of patients offered advanced treatment, OA needs to be identified so that prophylactic/therapeutic intervention, when available, can be incorporated into management protocols. The purpose of this study is to identify and determine the prevalence of OA in classical MMA." |
Date |
2016-03-01 |
Language |
eng |
Format |
application/pdf |
Format Creation |
application.pdf |
Type |
Text |
Source |
2016 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2016: Poster Presentations |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
Rights Management |
Copyright 2016. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6q27636 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Contributor Primary |
Joyce N. Mbekeani |
Contributor Secondary |
Hachemi Nezzar, Ola Al Ali, Zahra Al Sahlawi, Abdelmoniem Eldali, Mohammed Al Owain |
Setname |
ehsl_novel_nam |
ID |
185101 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6q27636 |