RARECONNECT
Nueva comunidad online para las personas con síndrome de MEPAN, una enfermedad neurometabólica
RARECONNECT
RARECONNECT
El síndrome de MEPAN es un trastorno neurometabólico causado por la síntesis defectuosa de ácidos grasos mitocondriales. Se presenta con distonía de comienzo en la infancia, atrofia óptica y anomalías en la señal de ganglios basales en la RM. Las personas afectadas albergan mutaciones recesivas en el gen MECR, que codifica la enzima mitocondrial trans-2-enoil-coenzima A-reductasa, una proteína clave en la síntesis de ácidos grasos mitocondriales. [Fuente] (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/)
MEPAN Syndrome is a neurometabolic disorder caused by defective mitochondrial fatty acid synthesis. It presents with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. Affected individuals harbor recessive mutations in the MECR gene, which encodes for the mitochondrial trans-2-enoyl-coenzyme A-reductase enzyme, a key protein in mitochondrial fatty acid synthesis. Source
MEPAN Syndrome is a neurometabolic disorder caused by defective mitochondrial fatty acid synthesis. It presents with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. Affected individuals harbor recessive mutations in the MECR gene, which encodes for the mitochondrial trans-2-enoyl-coenzyme A-reductase enzyme, a key protein in mitochondrial fatty acid synthesis. Source
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