Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

Table 1 Routine blood tests of patients with cholesteryl ester storage disease and their adult family members

Blood tests	Patients
	F	M	M, 5 yr	F, 9 yr	M, 31 yr	M, 34 yr	M, 34 yr
Alanine amino transferase (U/L)	86	38	19	19	66	28	18
Alkaline phosphatase (U/L)	49	96	269	234	61	79	52
Total bilirubin (mg/dL)	0.94	0.35	0.58	0.29	0.41	0.94	0.41
International normalised ratio (INR)	0.9	1.0	1.1	1.1	0.9	1.0	0.9
Haemoglobin (g/L)	132.1	137	120.8	127.3	133.7	148.2	161.1
Platelets (109/L)	121	168	230	329	234	192	229

F: Female; M: Male. Blood tests for 7 years child unavailable.