Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Aminoaciduria

Aminoaciduria is a group of disorders with elevated renal amini acid excretion, which might be selective or non-selective.

Systematic

Specific disturbances of proximal tubular transport
Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8
Disorders of the renal phosphate transporters
Monosacchariduria
Proximal renal tubular acidosis
Renal Hypouricemia

References:

1.

None (2008) Amino acid transport across mammalian intestinal and renal epithelia.

[^]
2.

Camargo SM et al. (2008) Aminoacidurias: Clinical and molecular aspects.

[^]
3.

None (2008) Apical transporters for neutral amino acids: physiology and pathophysiology.

[^]
4.

Orphanet article

Orphanet ID 53693 [^]
5.

Wikipedia article

Wikipedia EN (Aminoaciduria) [^]
Update: May 9, 2019