Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dicarboxylic aminoaciduria

Dicarboxylic aminoaciduria is an autosomal recessive disorder, caused by mutations of the SLC1A1 gene which encodes the amino acid transporter for aspartate and glutamate. The impaired renal and enteral resorption results in an aminoaciduria of these two amino acids and a disposition for kidney stones.

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Peghini P et. al. (1997) Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration.

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2.

Bailey CG et. al. (2011) Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

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3.

Melançon SB et. al. (1977) Dicarboxylic aminoaciduria: an inborn error of amino acid conservation.

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4.

Swarna M et. al. (1989) Dicarboxylic aminoaciduria associated with mental retardation.

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5.

Teijema HL et. al. (1974) Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia.

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Update: Sept. 26, 2018