Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports

Table 1 Blood test results

Patient		Case 1 (younger sister)				Case 2 (elder sister)
Age in mo		1	1.5	3.5	5.6	1.4	1.8	3.9
Complete blood count	White blood cell (4-10 × 109/L)	24.4	21.8	27.0	32.2	20.9	23.9	8.8
	Lymphocyte (45%-75%)	50.6	44.5	65.5	32	37.8	25.5	47.8
	Neutrophil (20%-50%)	35	42.8	28.5	62.9	75.0	72.8	43.8
	Red blood cell (4.0-5.5 × 1012/L)	4.3	3.8	-	4.0	4.1	-	3.0
	Hemoglobin (110-160 g/L)	143	124	100	110	125	108	84
	Platelet count (100-300 × 109/L)	506	509	303	308	418	357	464
	C-reactive protein (< 8 mg/L)	< 8	< 8	10.6	50	15	14	62
Serum biochemistry	Albumin (35-55 g/L)	37	-	39.5	39	41.8	35.8	38.7
	Globulin (20-30 g/L)	20.7	-	20.4	20	20.4	26.4	19.5
	Alanine aminotransferase (0-40 IU/L)	14	-	81	51	17	56	29
	Aspartate aminotransferase (0-40 IU/L)	46	-	154	93	53	121	49
	Total bilirubin (5.1-17.1 μmol/L)	8.5	-	-	4.8	-	5.0	3.0
	Direct bilirubin (0-6 μmol/L)	2.4	-	-	0.2	-	1.1	0.8
	γ-Glutamyl transpeptidase (7-50 IU/L)	60	-	-	14	-	-	16
	Total bile acid (0-10 μmol/L)	9.6	-	-	10.2	-	-	-
	Alkaline phosphatase (42-383 IU/L)	265	-	-	259	-	-	113
	Creatine kinase (25-200 IU/L)	142	-	175	140	141	813	72
	Creatine kinase-MB (< 25 IU/L)	73	-	69	38	34	302	24
	α-Hydroxybutyrate dehydrogenase (72-182 IU/L)	452	-	342	297	-	-	274
	Lactate dehydrogenase (180-430 IU/L)	556	-	500	330	-	922	296
	Glucose (3.9-5.8 mmol/L)	4.3	-	4.9	-	-	-	-
	Creatinine (31-52 μmol/L)	27	-	23.9	24	19	15	17
	Urea (2.5-6.5 mmol/L)	5.0	-	6.6	7.1	2.3	1.4	3.6
	Uric acid (90-420 μmol/L)	168	-	338	301	-	281	167
	Total cholesterol (3.1-5.2 mmol/L)	5.0	-	-	-	-	4.4	4.3
	Triglyceride (0.6-1.7)	1.0	-	-	-	-	2.1	2.1
Blood coagulation profiles	Activated partial thromboplastin time (28.0-44.5 s)	35.8	-	-	37.1	-	-	-
	D-dimer (0-0.3 mg/L)	0.54	-	-	1.51	-	-	-
	Fibrinogen (2-4 g/L)	3.43	-	-	3.26	-	-	-
	Fibrinogen degradation products (0-5 μg/mL)	1.16	-	-	4.4	-	-	-
	Thrombin time (14-21 s)	18.5	-	-	17.9	-	-	-
	International normalized ratio (0.8-1.2)	0.99	-	-	1.37	-	-	-
	Prothrombin time (12.0-14.8 s)	13	-	-	17	-	-	-
	Prothrombin time activity (80%-100%)	103	-	-	62	-	-	-
Immune function profiles	IgG (3.70–8.30 g/L)	-	7.6	-	-	12.31	13.91	-
	IgM (0.33–1.25 g/L)	-	0.52	-	-	0.63	0.61	-
	IgA (0.14–0.50 g/L)	-	0.05	-	-	0.10	0.12	-
	Complement 3 (0.67-1.76 g/L)	-	-	-	-	0.45	0.49	-
	Complement 4 (0.10-0.40 g/L)	-	-	-	-	< 0.06	0.10	-
	Total T cells (CD3) (53%-84%)	-	-	-	-	41.1	38.9	-
	Helper T cells (CD4) (35%-64%)	-	-	-	-	34.7	29.8	-
	Cytotoxic T cells (CD8) (12%-28%)	-	-	-	-	15.9	10.9	-
	Natural killer cells (CD16 + CD56) (4%-18%)	-	-	-	-	2.3	9.9	-
	B cells (CD19) (6%-32%)	-	-	-	-	36.3	43.6	-
Procalcitonin (< 0.05 ng/mL)		-	-	-	0.6	0.2	0.2	-
Interleukin-6 (< 7 pg/mL)			-	-	14.8	-	-	-

¹Values after IVIG therapy.

-: Not available. Reference ranges are presented in parentheses.