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dicarboxylic aminoaciduria

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Uniprot Description An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation.
Mondo Term and Equivalent IDs
MONDO:0009110:  dicarboxylic aminoaciduria
GARD:0001855: 
MESH:C536171: 
Orphanet:2195: 
SCTID:716747007: 
UMLS:C1857253: