Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Iminoglycinurie

Die Iminoglycinurie ist eine autosomal rezessive oder digenische Erkrankung die durch Mutationen in einem der Gene für Transporter neutraler Aminosäuren (SLC36A2, SLC6A20, SLC6A19) hervorgerufen wird. Bis auf eine vermehrte Ausscheidung von Prolin, Hydroxyprolin und Glycin im Harn verläuft die Erkrankung symptomfrei.

Epidemiologie

Die Häufigkeit wird mit 1:15.000 angegeben.

Gliederung

Aminoazidurie
Cystinurie
Dicarboxyl-Aminoazidurie
Erythrocyten-Lactat-Transporter-Mangel
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Hartnup-Erkrankung
Hyperglycinurie
Iminoglycinurie
SLC36A2
SLC6A19
SLC6A20
Lysinurische Proteinintoleranz
Monocarboxylate-Transporter 1 Mangel
SLC36A1
SLC3A2
SLC6A18
SLC7A8

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
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".

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]