Inborn errors of bile acid metabolism in Japan.
chenodeoxycholic acid
cholic acid
genetic analysis
neonatal cholestasis
urinary bile acid analysis
Journal
Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
Titre abrégé: Pediatr Int
Pays: Australia
ID NLM: 100886002
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
revised:
22
01
2023
received:
12
11
2022
accepted:
25
01
2023
medline:
24
4
2023
pubmed:
28
1
2023
entrez:
27
1
2023
Statut:
ppublish
Résumé
Bile acids are a category of steroids biosynthesized from cholesterol in the liver. Inborn errors of their metabolism are inherited in an autosomal recessive manner, resulting in enzyme deficiencies affecting the bile acid biosynthetic pathway. These defects in the pathway cause accumulation of unusual bile acids or bile alcohols. Unusual bile acids are highly cytotoxic, causing injury to the liver. These unusual bile acids damage hepatocytes, resulting in cholestatic liver injury beginning in infancy. Except for cerebrotendinous xanthomatosis and some secondary defects, various inborn errors of bile acid metabolism (IEBAM) have been reported from Japan, affecting eight patients including three with 3β-hydroxy-Δ
Substances chimiques
Bile Acids and Salts
0
Isomerases
EC 5.-
Oxidoreductases
EC 1.-
Mixed Function Oxygenases
EC 1.-
Ketosteroids
0
Oxysterols
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e15490Informations de copyright
© 2023 Japan Pediatric Society.
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