page_title: Dicarboxylic aminoaciduria
section_title: Cause
hierarchical_section_title: Dicarboxylic aminoaciduria / Cause
caption_attribution_description: English: Function of glutamate as a neurotransmitter between neurons. This figure highlight the use of excitatory amino acid transporters (EAAT) in this pathway.
context_page_description: Dicarboxylic aminoaciduria is a rare form of aminoaciduria which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons, intestine, kidney, lung, and heart. EAAT3 is part of a family of high affinity glutamate transporters which transport both glutamate and aspartate across the plasma membrane.
context_section_description: Glutamate transporters are proficient at pumping glutamate into cells due to their ability to couple with inorganic ions. Transport of glutamate into the cell requires the coupling of three sodium ions as well as a proton, whereas transport out of the cell requires a single potassium ion. This transport results in two positive charges being displaced across the membrane per cycle. Moreover, this process is dependent on a pH gradient, due to glutamate needing to be protenated prior to transport.
caption: Basic transport of glutamate in the synapse as well as the neuroglia.
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