Ten-year enzyme replacement therapy in early childhood-onset lysosomal acid lipase deficiency: A case report

Table 1 Hepatic function tests and lipid levels before and during enzyme replacement therapy

Evaluation time	AST (9-43) U/L	ALT (4-45) U/L	TC (< 170) mg/dL	LDL-C (< 110) mg/dL	HDL-C (> 35) mg/dL	TG (< 130) mg/dL	GGT (6-26) U/L	ALP (150-420) U/L
Before treatment	59	82	264	193	29	168	28	320
Treatment week 52	46	43	222	160	47	69	-	221
Treatment week 104	55	71	222	173	36	62	13	315
Treatment week 156	31	30	227	166	43	89	11	280
Treatment week 208	32	34	340	271	50	93	16	371
Treatment week 260	51	46	297	211	62	118	-	406
Treatment week 312	28	26	202	126	58	87	-	-
Treatment week 364	33	33	236	130	56	64	-	337
Treatment week 416	38	34	187	129.4	44	68	13	263
Treatment week 468	28	28	177	92.4	55	76	13	-

ALP: Alkaline phosphatase; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; GGT: γ-glutamyltransferase; HDL-C: High-density lipoprotein cholesterol; LDL-C: Low-density lipoprotein cholesterol; TC: Total cholesterol; TG: Triglycerides.

Table 2 Evaluation of liver and spleen size and lipid content by abdominal magnetic resonance imaging

Parameter	Evaluation time	Absolute value (multiples of normal)	Change from baseline	% change from baseline
Hepatic volume	First visit	1.79
	Week 48	1.30	-0.48	-27.1
	Week 96	1.41	-0.37	-20.9
Hepatic lipid content	First visit	7.52
	Week 48	6.62	-0.9	-12.0
	Week 96	7.77	0.25	3.3
Splenic volume	First visit	2.24
	Week 48	2.73	0.49	21.9
	Week 96	2.16	-0.08	-3.7
Splenic lipid content	First visit	1.41
	Week 48	2.23	0.24	12.1
	Week 96	1.37	-0.62	-31.2

Table 3 Assessment of hepatic biopsy findings before and during enzyme replacement therapy

Evaluation time	Ishak fibrosis score	Lobular inflammation	Macrovesicular steatosis	Microvesicular steatosis	Portal inflammation
Before treatment	3	2	0	4	3
Treatment week 52	2	1	1	2	1
Treatment week 104	1	1	0	4	2