Inborn errors of bile acid synthesis
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1.Infant onset; 2.Clinical manifestations of hyperbilirubinemia, growth retardation, fatty diarrhea, liver enlargement or cirrhosis, liver failure, a variety of fat soluble vitamin deficiency of the corresponding symptoms; 3.DNA sequence mutation of some enzyme in bile acid synthesis was found by gene detection.
Exclusion criteria
Exclusion criteria: Except for progressive familial intrahepatic cholestasis and Zellweger syndrome.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| bile acid; | — |
Countries
China
Contacts
Department of Pediatric Medicine, Seventh Medical Center of Chinese PLA General Hospital