Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Adult
Calcium-Binding Proteins
/ genetics
Cholestasis
/ etiology
Citrullinemia
/ diet therapy
Fatty Liver
/ etiology
Humans
Infant, Newborn
Liver Transplantation
Mitochondrial Membrane Transport Proteins
/ genetics
Organic Anion Transporters
/ genetics
Triglycerides
/ blood
Vitamins
/ therapeutic use
CTLN2
Carbohydrate toxicity
Cholestasis
Citrin
Citrullinemia
Diet therapy
FTTDCD
NICCD
SLC25A13
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
02
05
2019
revised:
14
06
2019
accepted:
14
06
2019
pubmed:
1
7
2019
medline:
10
4
2020
entrez:
1
7
2019
Statut:
ppublish
Résumé
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); 2) adaptation/compensation stage with unique food preference from childhood to adulthood; and 3) CTLN2. The treatment of NICCD aims to prevent the progression of cholestasis, and it includes medium chain triglycerides (MCT) milk and lactose-free milk, in addition to medications (e.g., vitamin K
Identifiants
pubmed: 31255436
pii: S1096-7192(19)30327-0
doi: 10.1016/j.ymgme.2019.06.004
pii:
doi:
Substances chimiques
Calcium-Binding Proteins
0
Mitochondrial Membrane Transport Proteins
0
Organic Anion Transporters
0
Triglycerides
0
Vitamins
0
citrin
1340-08-5
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
175-183Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.