Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Table 1 Hepatic function test, lipid profile and coagulation values in patients

Parameter (unit)	Sibling 1		Sibling 2		Reference value
	2 yr	9 yr	6 mo	4 yr
AST (U/L)	229	192	61	221	8-50
ALT (U/L)	344	193	56	181	7-45
Alkaline phosphatase (U/L)	365	545	328	402	4 yr: 169-372
					9 yr: 212-468
Lactate dehydrogenase (U/L)	258	281	288	236	4-6 yr: 145-345
					7-9 yr: 143-290
Total bilirubin (mg/dL)	0.8	0.42	0.2	0.42	0.1-0.9
Indirect bilirubin (mg/dL)	0.7	0.2	0.1	0.28
Total cholesterol (mg/dL)	343.0	211.0	165.0	221.0	< 170
Triglycerides (mg/dL)	316.0	118.0	154.0	181.0	< 90
LDL-cholesterol (mg/dL)	277.1	157.4	123.0	154.8	< 100 (optimal)
HDL-cholesterol (mg/dL)	22.3	30.0	30.0	30.0	≥ 60
Trombin time (min)	21.87	23.1	21.1	20.8	15-22
Prothrombin time (min)	13.9	14.8	12.0	12.4	11-15
pTT (min)	30.2	35.1	27.8	32.0	25-33
INR (%)	1.15 (92.8%)	1.3 (58.4%)	1 (100.8%)	1.1 (72.8%)	0.8-1.1 (89%-129%)