Table 1.

Molecular and Biochemical Markers of Anderson-Fabry Disease.

Organ Specificity	Biomarker	Plasma/Urine	Value	Availability	Response to ERT
Nonspecific	Gb3 [7,8,9,15]	Plasma/Urine	Diagnosis in classic male patients	Clinical work-up	Useless [7]
	Lyso-Gb3 [8,9,10,12,13,14]	Plasma	Increased in all male AFD patients and in most females. Confirmation in mutations of unknown significance	Clinical work-up	Decreased
Kidney	Proteinuria [1,17,18,19,20]	Urine	Glomerular damage	Clinical work-up	Decreased [47]
	Podocyturia [22,23,24,25,26,27]	Urine	Glomerular damage	Clinical work-up	Decreases
	Creatinine [15]	Plasma	Change in GFR	Clinical work-up	Decreased [48] mean slop GFR
	Cystatin C [9,28]	Plasma	Early change in GFR	Clinical work-up	Not studied
	N-acetil-β-d-glucosaminidase [15]	Urine	Tubular damage	Experimental studies	Not studied
	β2-microglobulin [15]	Urine	Tubular damage	Experimental studies	Decreases
	Uromodulin [30]	Urine	Tubular damage	Experimental studies	Not studied
	α1-microglobulin [31]	Urine	Tubular damage	Experimental studies	Decreases
	Retinol-binding Protein [31]	Urine	Tubular damage	Experimental studies	Decreases
	Bikunin [32]	Urine		Experimental	Not studied
Heart	NT-proBNP [33,34]	Plasma	Elevated in subclinical disease. Correlates with cardiomyopathy severity	Clinical work-up	Not studied
	Troponin [35]	Plasma	Correlates with higher LV posterior wall diameter	Clinical work-up	Not studied
	Hs-cTnT [38,39]	Plasma	Correlates with LVH and amount of left ventricular fibrosis	Clinical work-up	Not studied
	IL 6 [41]	Plasma	Cardiac damage	Experimental studies	Decreases
	MCP 1 [41]	Plasma	Cardiac damage	Experimental studies	Decreases
	MMP-9 [43]	Plasma	Cardiac damage	Experimental studies	Not studied

Gb3 - globotriaosylceramide; Lyso-Gb3 – globotriaosylsphingosine; NT-proBNP - N-terminal fragment of the brain natriuretic peptide pro-hormone; Hs-cTnT - high-sensitivity assays for cardiac troponin T; IL6 – interleukin 6; MCP 1 - monocyte chemoattractant protein 1; MMP-9 - matrix metalloproteinase 9.