Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (Q96318): Difference between revisions
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A síndrome de depleção do DNA mitocondrial, forma encefalomiopática com acidúria metilmalônica, é caracterizada pela associação de uma encefalomiopatia mitocondrial e uma aminoacidopatia. Manifesta-se com retardo no desenvolvimento, sinais neurológicos, surdez, intolerância ao exercício, acidose láctica e elevação de vários aminoácidos plasmáticos. | |||
| description / en | description / en | ||
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. | |||
Revision as of 12:16, 16 August 2026
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1700584252 |
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| English | Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. |
