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Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy
A 12 week old female Labrador retriever dog with signs of progressive diffuse degeneration of the brain and spinal cord was found to have methlymalonic and malonic aciduria. Over a 5 month period, the dog developed neurologic signs compatible with disease of the central nervous system with predomina...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Kluwer Academic Publishers-Plenum Publishers
1996
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089197/ https://www.ncbi.nlm.nih.gov/pubmed/8869944 http://dx.doi.org/10.1007/BF02237961 |
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author | Podell, Michael Shelton, G. Diane Nyhan, William L. Wagner, Susan O. Genders, Anne Oglesbee, Michael Fenner, William R. |
author_facet | Podell, Michael Shelton, G. Diane Nyhan, William L. Wagner, Susan O. Genders, Anne Oglesbee, Michael Fenner, William R. |
author_sort | Podell, Michael |
collection | PubMed |
description | A 12 week old female Labrador retriever dog with signs of progressive diffuse degeneration of the brain and spinal cord was found to have methlymalonic and malonic aciduria. Over a 5 month period, the dog developed neurologic signs compatible with disease of the central nervous system with predominant diffuse cerebral and right lateralizing brainstem deficits. Gross pathological examination of the brain showed that the lateral, third, and fourth ventricles of the brain were markedly enlarged and associated with white and grey matter atrophy. Syringomyelia and hydromyelia of the central canal into the dorsal funiculus of the spinal cord beginning at the level of the cervical intumescence and extending to the lumbar intumescence was also present. Significant biochemical abnormalities include methylmalonic and malonic aciduria, mild lactic and pyruvic aciduria. There was also accumulation of citric acid cycle intermediates including succinic, aconitic, and fumaric acids. Disordered fatty acid oxidation was suggested by increased excretion of adipic, ethylmalonic, suberic and sebacic acids. Neither ketoacidosis nor hyperammonemia were present, and serum cobalamin levels were normal. Overall, this dog demonstrates an inborn error of metabolism resulting in abnormal organic acid accumulation associated with a neurodegenerative disease. |
format | Online Article Text |
id | pubmed-7089197 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 1996 |
publisher | Kluwer Academic Publishers-Plenum Publishers |
record_format | MEDLINE/PubMed |
spelling | pubmed-70891972020-03-23 Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy Podell, Michael Shelton, G. Diane Nyhan, William L. Wagner, Susan O. Genders, Anne Oglesbee, Michael Fenner, William R. Metab Brain Dis Article A 12 week old female Labrador retriever dog with signs of progressive diffuse degeneration of the brain and spinal cord was found to have methlymalonic and malonic aciduria. Over a 5 month period, the dog developed neurologic signs compatible with disease of the central nervous system with predominant diffuse cerebral and right lateralizing brainstem deficits. Gross pathological examination of the brain showed that the lateral, third, and fourth ventricles of the brain were markedly enlarged and associated with white and grey matter atrophy. Syringomyelia and hydromyelia of the central canal into the dorsal funiculus of the spinal cord beginning at the level of the cervical intumescence and extending to the lumbar intumescence was also present. Significant biochemical abnormalities include methylmalonic and malonic aciduria, mild lactic and pyruvic aciduria. There was also accumulation of citric acid cycle intermediates including succinic, aconitic, and fumaric acids. Disordered fatty acid oxidation was suggested by increased excretion of adipic, ethylmalonic, suberic and sebacic acids. Neither ketoacidosis nor hyperammonemia were present, and serum cobalamin levels were normal. Overall, this dog demonstrates an inborn error of metabolism resulting in abnormal organic acid accumulation associated with a neurodegenerative disease. Kluwer Academic Publishers-Plenum Publishers 1996 /pmc/articles/PMC7089197/ /pubmed/8869944 http://dx.doi.org/10.1007/BF02237961 Text en © Plenum Publishing Corporation 1996 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
spellingShingle | Article Podell, Michael Shelton, G. Diane Nyhan, William L. Wagner, Susan O. Genders, Anne Oglesbee, Michael Fenner, William R. Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title | Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title_full | Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title_fullStr | Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title_full_unstemmed | Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title_short | Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
title_sort | methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089197/ https://www.ncbi.nlm.nih.gov/pubmed/8869944 http://dx.doi.org/10.1007/BF02237961 |
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