Table 1.

Detailed characteristics of the patient's phenotype.

Parameter and reference values	Age [years]
	2	3	4	5	6	7
AST [<59 U/l]	100	128	82	72	121	63
ALT [<39 U/l]	125	193	69	68	71	68
TC [<170 mg/dl]	330	366	339	423	380	344
LDL-C [<110 mg/dl]	263	298	266	349	292	265
TG [<75 mg/dl]	274	298	324	301	383	338
HDL-C [>45 mg/dl]	10	8	8	14	11	11
Liver measurement on ultrasound [cm below right costal margin]	2	3	4	4	5	6
Spleen length on ultrasound [cm]	7,5	8,5	9,5	10	11	12
Plasma chitotriosidase activity [<150 nmol/ml/h]	n.a.	784	n.a.	n.a.	n.a.	760