Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Table 1

Laboratory assessment of patients at the time of diagnosis.

	Patient 1^a	Patient 2	Patient 3	Patient 4	Patient 5	Reference range
AST (U/L)	55	80	35	39	909	<40
ALT (U/L)	35	76	30	38	1449	<41
GGT (U/L)	17	19	19	17	754	≤60
Alkaline phosphatase (U/L)	194	140	243	221	668	<390
Total cholesterol (mg/dL)	212	222	177	164	287	<170
HDL-C (mg/dL)	12	19	34	31	28	>39
LDL-C (mg/dL)	148.8	170	146	117	234	<110
VLDL-C (mg/dL)	51.2	33	—	—	25	—
Triglycerides (mg/dL)	256	167	108	111	125	<100
Total bilirubin (mg/dL)	4.04	0.5	0.39	0.7	16.08	<1
DB (mg/dL)	3.2	0.2	0.13	0.2	12.64	0.0–0.2
IB (mg/dL)	0.84	0.3	0.26	0.5	3.44	0.1–0.6

ALT, alanine aminotransferase; AST, aspartate aminotransferase; DB, direct bilirubin; GGT, gamma-glutamyltransferase; HDL-C, high-density lipoprotein cholesterol; IB, indirect bilirubin; LDL-C, low-density lipoprotein cholesterol; VLDL-C, very-low-density lipoprotein cholesterol. ^aSamples were collected by the time the clinical diagnosis of LALD was suspected, since the biochemical diagnosis was established postmortem.