AGC1 deficiency associated with global cerebral hypomyelination.

  title={AGC1 deficiency associated with global cerebral hypomyelination.},
  author={Rolf Wibom and Francesco Massimo Lasorsa and Virpi T{\"o}h{\"o}nen and Michela Barbaro and Fredrik H Sterky and Thomas Kucinski and Karin Naess and Monica Jonsson and Ciro Leonardo Pierri and Ferdinando Palmieri and Anna Wedell},
  journal={The New England journal of medicine},
  volume={361 5},
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the… CONTINUE READING


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