Dicarboxylic aminoaciduria

Dicarboxylic aminoaciduria
Classification and external resources
Specialty	endocrinology
ICD-10	E72.0
OMIM	222730
DiseasesDB	14901
MeSH	C536171
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Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) 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.

Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. This affects a diseased individual's amino acid pool, as they will have to spend additional resources to replenish the amino acids which would have otherwise been present. Additionally, glutamate transporters are responsible for the synaptic release of the glutamate (neurotransmitter) within the interneuronal synaptic cleft. This hindrance of functionality in individuals with dicarboxylic aminoaciduria may be related to growth retardation, intellectual disability, and a tendency toward fasting hypoglycemia and ketoacidosis . Dicarboxylic aminoaciduria is diagnosed by finding the increased presence of glutamate and aspartate in the urine.

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