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iminoglycinuria

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
Uniprot Description A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
Mondo Term and Equivalent IDs
MONDO:0009448:  iminoglycinuria
GARD:0008424: 
MESH:C536285: 
Orphanet:42062: 
SCTID:84121007: 
UMLS:C0268654: