Table 3.

MYO5B mutation clinical characteristics and outcome

Ref.		Age at onset of symptom	Age at initial evaluation	Symptoms	Treatment	Lab parameters			Outcome
						GGT (IU/L)	AST (IU/L)	ALT (IU/L)
Qiu et al[20], 2017	n = 10, M-8, F-2, 4 had affected siblings	2 d-19 mo	1 mo-10 yr	Jaundice and pruritus; No diarrhea	UDCA, cholestyramine	9-99	24-255	41-432	Recurrent-3, persistent-2, transient cholestasis-2, lost to follow-3, listed for LT -1 (died)
Cockar et al[19], 2020	n = 6, M-3, F-3	-	6 mo-15 yr	Pruritus with pale stools-6, Jaundice-3; FTT-3; Diarrhea-2, (intractable and settled at 3 yr and 7 yr), gallstone-1	Antipruritic medications-6; PIBD-1; PIBD followed by PEBD-1; ENBD followed by PEBD-1	10-22	-	15-177	1-LT for poor QOL and pruritus; 5-Partial response with mild pruritus while on medications
Gonzales et al[8], 2017	n = 5, M-4, F-1	-	7-15 mo	Pruritus-5; Jaundice-5; Pale stools-5 hepatomegaly-5; Language delay-1 episodes of severe diarrhea before 3 yr of age-1	UDCA and rifampicin-5; PEBD-1	7-11	31-170	57-207	Followed till 3.5-13.5 yr of age; Fluctuating cholestasis-4; Cholestasis resolved after 1 mo of PEBD, well till 7 yr of age
Girard et al[17], 2014	n = 8/28 MVID, patients with cholestasis M-5, F-3	3-60 mo		Jaundice, pruritus, hepatomegaly-8; Pre Int Tx-5, post Int Tx-3	Antipruritic medications-8; PIBD followed by PEBD-1; PIBD-1; PEBD-1; Combined liver and Int Tx-1	8-42	51-124	52-121	Follow up till 2.8-14 yr of age, remission-6, partial remission-2; Removal of small bowel graft due to acute rejection in 2 cases improved cholestasis

AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; ENBD: Endonasal biliary drainage; F: Female; FTT: Failure to thrive; GGT: Gamma glutamyl transferase; Int Tx: Intestinal transplant; LT: Liver transplantation; M: Male; MVID: Microvillus inclusion disease; PEBD: Partial external biliary drainage; PIBD: Partial internal biliary drainage; QOL: Quality of life; UDCA: Ursodeoxycholic acid.