Table 4.

Confirmatory tests and follow-up of positive infants.

Timing	Suggested Tests
Diagnostic confirmation	Genetic analysis * (patient and parents), substrate quantification (plasma lysoGb3) and enzyme activity in leukocytes, lymphocytes or plasma (in males).
Baseline diagnostic studies	ECG, echocardiogram, ophthalmologic examination, renal function tests, plasma and/or urine GL3
Follow up every 6 months (classic form) or 12 months (later onset form)	Clinical examination (angiokeratomas, hypohidrosis, gastrointestinal symptoms, limb pain), kidney (eGFR according to Schwartz formula, microalbuminuria, proteinuria), cardiac assessments (ECG, echocardiography, 24-h holter), neurologic evaluation, plasma lyso-Gb3.

* Variants are classified according to published clinical reports and public databases.