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Iminoglycinuria

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.

Epidemiology

The prevalence is 1 in 15,000.

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
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.

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2.

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

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3.

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

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4.

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".

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5.

Goodman RM et al. (1971) The question of trisomy 22 syndrome.

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6.

Procopis PG et al. (1971) Iminoaciduria: a benign renal tubular defect.

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7.

Whelan DT et al. (1968) Cystathioninuria and renal iminoglycinuria in a pedigree.

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8.

Rosenberg LE et al. (1968) Familial iminoglycinuria. An inborn error of renal tubular transport.

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9.

Tada K et al. (1965) Prolinuria: a new renal tubular defect in transport of proline and glycine.

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10.

Goodman SI et al. (1967) Impaired intestinal transport of proline in a patient with familial iminoaciduria.

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11.

Saito T et al. (1981) Atypical gyrate atrophy of the choroid and retina and iminoglycinuria.

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12.

Orphanet article

Orphanet ID 42062 external link
13.

OMIM.ORG article

Omim 242600 external link
14.

Wikipedia article

Wikipedia EN (Iminoglycinuria) external link
Update: Aug. 14, 2020
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