Catalog

Mitochondrial glutamate carrier 1 deficiency

No MMS code

Link to WHO Definition

Mitochondrial glutamate carrier 1 deficiency – http://id.who.int/icd/entity/358582965

This is a deficiency predominantly expressed in the plasma membrane, allowing it to remove glutamate from the extracellular space. It has also been localised in the inner mitochondrial membrane as part of the malate-aspartate shuttle.