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: June 23, 2025

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