Nitisinone causes acquired tyrosinosis in alkaptonuria.
alkaptonuria
nitisinone
pool size
tyrosinaemia
tyrosinosis
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
30
11
2019
revised:
01
02
2020
accepted:
17
02
2020
pubmed:
23
2
2020
medline:
6
10
2021
entrez:
22
2
2020
Statut:
ppublish
Résumé
For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying agent. NTBC-induced hypertyrosinaemia has been associated with cognitive impairment and potentially sight-threatening keratopathy. In the context of a non-lethal condition (ie, AKU), these serious risks call for an evaluation of the wider impact of NTBC on the tyrosine pathway. We hypothesised that NTBC increases the tyrosine pool size and concentrations in tissues. In AKU mice tyrosine concentrations of tissue homogenates were measured before and after treatment with NTBC. In humans, pulse injection with l-[
Substances chimiques
Cyclohexanones
0
Nitrobenzoates
0
Tyrosine
42HK56048U
Phenylalanine
47E5O17Y3R
nitisinone
K5BN214699
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1014-1023Informations de copyright
© 2020 SSIEM.
Références
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