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 |
Affiliation |
(JNM) Dept of Surgery, North Bronx Health Network, Bronx, NY; (JNM) Dept of Ophthalmology & Visual Sciences, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY; (HN) Dept of Ophthalmology, King Faisal Speicalist Hospital & Research Center, Riyadh, Saudi Arabia; (HN) Service d'Ophthalmologie, Centre Hospitalier Universtiare - Gabriel Montpied Clermont Ferrand, France; (ZA) (MA) Dept of Medical Genetics, King Faisal Specialist Hospital & Research Center Riyadh, Saudi Arabia; (AE) Dept of Biostatistics, King Faisal Specialist Hospital & Research Center Riyadh, Saudi Arabia |
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 |
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: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
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/ |
Setname |
ehsl_novel_nam |
ID |
185101 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6q27636 |