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

Table 4 Comparison of reported ancillary tests in patients with ATP6AP1-congenital disorders of glycosylation

Family	Case	Abnormal liver function	Hypogammaglobulinemia	Low serum copper/ ceruloplasmin	Liver biopsy
1[4]	1.1	+/-	+	+	NA
	1.2	+/-	+	+	NA
	1.3	+/-	+	NA	-
2[4]	2	+/-	+	+	Slight steatosis
3[4]	3.1	+/-	+	+	Fibrosis, steatosis, cirrhosis
	3.2	+/-	+	+	Steatosis, cirrhosis
4[4]	4.1	+	+	+	Micronodular cirrhosis
	4.2	+	+	+	Micronodular cirrhosis
5[4]	5.1	+	+	+	Fibrosis, cirrhosis, steatosis, cholestasis
	5.2	+	+	+	NA
6[4]	6	+	+	+/-	Fibrosis, cirrhosis, steatosis
7[15]	7	+	-	+	Micronodular cirrhosis, steatosis
8[12]	8	+	+	+	NA
9[13]	9.1	+	-	+	Fibrosis, steatosis, cholestasis
	9.2	+	-	+	Fibrosis, steatosis, cholestasis
10[14]	10.1	+	+	+	Fibrosis, steatosis, micronodular cirrhosis
	10.2	+	-	+	Fibrosis, steatosis, micronodular cirrhosis
11[21]	11	+	+	+	Steatosis, cirrhosis
12	12	+	+	+	Chronic hepatitis, nodular cirrhosis

+: Abnormal; -: Normal; NA: Not available.