Iminoglycinuria is an autosomal recessive or digenic disorder caused by mutation in one of the neutral amino acid transporter genes (SLC36A2, SLC6A20, SLC6A19). The symptoms inlcude urinary excretion of proline, hydroxyplroline nad glycin.
The prevalence is 1 in 15,000.
Bröer S et. al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.[^]
Tancredi F et. al. (1970) Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids.[^]
None (1968) Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.[^]
Statter M et. al. (1976) Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".[^]
Goodman RM et. al. (1971) The question of trisomy 22 syndrome.[^]
Procopis PG et. al. (1971) Iminoaciduria: a benign renal tubular defect.[^]
Whelan DT et. al. (1968) Cystathioninuria and renal iminoglycinuria in a pedigree.[^]
Rosenberg LE et. al. (1968) Familial iminoglycinuria. An inborn error of renal tubular transport.[^]
Tada K et. al. (1965) Prolinuria: a new renal tubular defect in transport of proline and glycine.[^]
Goodman SI et. al. (1967) Impaired intestinal transport of proline in a patient with familial iminoaciduria.[^]
Saito T et. al. (1981) Atypical gyrate atrophy of the choroid and retina and iminoglycinuria.[^]