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Aminoaciduria


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Aminoaciduria

Clinical feature: 

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

Systematic link table: 

Disorders of tubular solute transport
Aminoaciduria
Cystinosis
CTNS
Cystinuria
SLC3A1
SLC7A9
Fanconi-Bickel syndrome
SLC2A2
Lysinuric protein intolerance
SLC7A7
Hereditary Salt-wasting tubulopathies
Hyperphosphaturia
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Lowe disease
OCRL1
Monosacchariduria
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Renal Hypouricemia
SLC22A12
Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4

Literature: 

Bröer S et al. (2008) Apical transporters for neutral amino acids: physiology and pathophysiology.
Camargo SM et al. (2008) Aminoacidurias: Clinical and molecular aspects.
Bröer S et al. (2008) Amino acid transport across mammalian intestinal and renal epithelia.