Table 2.

Procedures to be carried out at initial clinical workup and follow‐up monitoring

System	Assessment	Baseline assessments†	Monitoring (annual in boys, every 2‐3 years in girls, unless otherwise indicated)
Kidneys	Serum urea	X	X
	Serum creatinine	X	X
	Serum uric acid	X (for children aged >5 years)	X (for children aged >5 years)
	Estimated GFR (composite Schwartz formula 2012)	X (for boys and girls)	X (if no renal involvement at baseline)
	Cystatin C	X	X
	Measured GFR (if available)	X (for boys)	X (for boys and girls with renal involvement at baseline)
	Albuminuria	X	X
	Proteinuria	X	X
	Kidney ultrasound	X	—
Heart	ECG	X	X
	Cardiac ultrasound	X	X
	Holter	—	If indicated by baseline ECG; optional depending on symptoms and clinical availability of test from aged 15
	Cardiac MRI with T1 mapping	Consider if technique is available and sedation of patient not necessary
Nervous system	Cerebral MRI	No (consider at adulthood)
	Pain consultation	If pain is present and if needed
Metabolism	α‐galactosidase A activity in leucocytes, plasma or DBS	At diagnosis	—
	Plasma lysoGb3	Before ERT initiation	X
	Anti‐agalsidase antibodies	Before ERT initiation	X
Eyes	Ophthalmologic exam including slit lamp examination	X	—
Skin	Clinical examination	X	X
	Standardised photos of angiokeratomas	X	X
Gastrointestinal/endocrinology	Clinical examination and growth curve	X	X
Other	25OHD3	X	X
	QoL and school absenteeism	X	X
	Audiogram	X (from age 10)	If indicated by symptoms
	X chromosome inactivation	X (for girls)	—

Abbreviations: DBS, dried blood spot testing; ECG, electrocardiogram; ERT, enzyme replacement therapy, lysoGb₃, globotriaosylsphingosine; GFR, glomerular filtration rate; MRI, magnetic resonance imaging; 25OHD3, 25‐hydroxyvitamin D3.

^† The baseline audit of organ involvement should be performed following diagnosis for symptomatic children by age 5 in asymptomatic boys and by age 12‐15 for asymptomatic girls.