Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

Table 1 Laboratory test results of the patient

Panel	Index/reference range	Result
Liver function	ALT (9-60 U/L)	213
	AST (15-45 U/L)	242
	TBIL (3.40-20.50 μmol/L)	1.60
	IBIL (3.10-14.30 μmol/L)	0.60
	TBA (0.00-10.00 μmol/L)	21.46
	TP (65.0-85.0 g/L)	62.2
	GLO (20.0-40.0 g/L)	11.3
	ALB (40.0-55.0 g/L)	50.9
	GGT (0.0-50.0 U/L)	64.0
	ALP (40-500 U/L)	557
Liver genetic metabolic index	24h-Cu (0.24-0.48 μmol/24 h)	0.03
	CER (180-450 mg/L)	133
	LACT (0.63-2.44 mmol/L)	2.79
	Blood ammonia (18-72 μg/dL)	181
Immunoglobulin	IgG (8.0-18.0 g/L)	4.20
	IgA (0.90-4.50 g/L)	1.30
	IgM (0.84-1.32 g/L)	0.54
Routine blood test	PLT (125-350 × 109/L)	138
Blood lipids	HDL-C (1.03-2.07 mmoL/L)	0.09
	LDL-C (1.0-4.4 mmol/L)	1.74
Cardiac enzymes	CK (10-174 U/L)	94
	CK-MB (0.0-25.0 U/L)	56.0
	LD (109-245 U/L)	331

ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; TBIL: Total bilirubin; IBIL: Indirect bilirubin; TBA: Total bile acids; TP: Total protein; GLO: Globulin; ALB: Albumin; GGT: Gamma-glutamyl transpeptidase; ALP: Alkaline phosphatase; 24h-Cu: 24-hour urine copper; CER: Ceruloplasmin; LACT: Lactic acid; PLT: Platelets; HDL-C: High-density lipoprotein; LDL-C: Low-density lipoprotein; CK: Creatine kinase; CK-MB: Creatine kinase myocardial band; LD: Lactate dehydrogenase.