Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperglycinuria

Hyperglycinuria is a benign autosomal dominant disorder caused by mutations in one of the neutral amino acid transporters (SLC36A2, SLC6A20, SLC6A19).

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
Lysinuric protein intolerance
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

[^]
2.

Oberiter V et al. (1978) Hyperglycinuria with nephrolithiasis.

[^]
3.

Greene ML et al. (1973) Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids.

[^]
4.

Tancredi F et al. (1970) Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids.

[^]
5.

None (1968) Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

[^]
6.

Adams CW et al. (1967) Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts.

[^]
7.

DE VRIES A et al. (1957) Glycinuria, a hereditary disorder associated with nephrolithiasis.

[^]
8.

OMIM.ORG article

Omim 138500 [^]
Update: April 29, 2019