Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

Table 1 Biochemical change of the patient in different ages

Biochemical item	9 months old	19 months old	Normal range
ALT	745	231	<49U/L
AST	4372	1172	<40U/L
TBIL	36.9	23.8	5~21μmol/L
DBIL	31.6	21.8	<6.8μmol/L
TBA	254.8	254.8	0~10μmol/L
ALB	21.0	24.8	38.0~54.0g/L
PT	29.6	25.2	8.7~14.7sec
APTT	123.6	212.0	17.5~37.5 sec
INR	2.47	2.09	0.8~1.5
Fg	102	<50	200~400mg/dl
VitD^a	23.4	21.90	30~100ng/ml
Zn^a	-	54.62	43.55~95.63μmol/L
NH₃	40.0	76.0	9~30μmol/L

Abbreviation: ALT Alanine aminotransferase, AST Aspartate Aminotransferase, TBIL Total bilirubin, DBIL Direct bilirubin, TBA Total bile acid, ALB Albumin, PT Prothrombin time, APTT Activated partial thromboplastin time, INR International Normalized Ratio, Fg Fibrogen, VitD Vitamin D, Zn Zinc
^aThe patient received Vitamin AD drops and Calcium Zinc Gluconate Oral Solution daily based on the advice of pediatrician of child health care departement

ISSN: 1471-2431