Table 2. Summary of investigated parameters and abnormalities as typical for FD.

			Laboratory FD parameters						FD typical abnormalities
				Enzyme activity in
Patient	Sex	Age	CDS mutation	Plasma[nmol MU/h/ml]	Leukocytes[nmol MU/h/mg]	Lyso-Gb3[ng/ml]	GLA RNAexpression	GLA expression in plasma	Renal	Cardiac	Neurologic
II.3	m	71	D313Y	2.39	78	0.83	yes	yes	no	no	WML
II.4	f	74	D313Y	5.67	83	0.41	yes	yes	no	no	WML
II.6	f	76	D313Y	0.60	161	0.82	yes	yes	no	no	WML
II.7	f	58	D313Y	3.21	38	0.61	yes	yes	no	no	WML
III.7	f	38	D313Y	4.89	55	1.26	n.d.	yes	no	no	n.d.
III.8	f	49	D313Y	5.83	n.d	n.d.	yes	yes	no	no	WML
III.11	f	34	D313Y	n.d.	n.d.	1.82	n.d.	n.d.	no	no	WML
III.14	f	41	D313Y	0.10	79	0.75	yes	yes	no	no	WML
III.16	f	25	no	9.14	57	n.d.	yes	yes	no	no	no
III.17	f	31	no	10.1	64	n.d.	yes	yes	no	no	No

Renal parameters: ultrasonography, albumin/creatinine ratio, determination of eGFR. Cardiac parameters: echocardiography, cardiac magnetic resonance imaging (MRI) and electrocardiogram. Neural/cerebral parameters: MRI, neurography and neuropsychologic diagnostics. Reference values: plasma activity >8.0 nmol MU/h/ml; leukocyte activity >33 nmol MU/h/mg protein; lyso-Gb3<1.84 ng/ml. n.d.: not determined; WML: white matter lesions. Abnormal findings are highlighted in bold.