Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort

Table 6 Phenotypic, genetic and laboratory characteristics of various pediatric studies with biallelic ABCB4 mutation

Ref.	Year/country	Number of patients	Median age at onset of symptoms (months)	Median Age at presentation (years)	Pruritus (%)	Jaundice (%)	Hepatomegaly (%)	Splenomegaly (%)	Variants with missense mutation (%)	Laboratory parameters
										Gamma-glutamyltransferase (IU/L)	Alanine aminotransferse (IU/L)	Aspartate aminotransferse (IU/L)	Total bilirubin (mg/dL)
Schatz et al[12]	2018/Germany	26	5	4.8	100	61.5	84.6	96.1	77.1	320	212
Chen et al[13]	2022/China	13	36	-	30.7	53.8	100	77	61.5	197		130	1.1
Al-Hussaini et al[14]	2021/Saudi Arabia	25	10	2	92	12	80	-	81.4	202		149	1.27
Gonzales et al[15]	2023/France	38	11	3.3	79	29	82	68	71	150		-	0.73
Index study	2025/India	16	54	5	68.8	68.8	100	81.2	81.3	171	120.5	198	2.58