Nutritional interventions for patients with alkaptonuria: A minireview.
alkaptonuria
nitisinone
nutritional intervention
Journal
Endocrine regulations
ISSN: 1336-0329
Titre abrégé: Endocr Regul
Pays: Germany
ID NLM: 9112018
Informations de publication
Date de publication:
01 Jan 2023
01 Jan 2023
Historique:
medline:
28
3
2023
entrez:
26
3
2023
pubmed:
27
3
2023
Statut:
epublish
Résumé
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent deposition as pigment in connective tissues called ochronosis. As a result, severe arthropathy of large joints and spondyloarthropathy with frequent fractures, ligament ruptures, and osteoporosis develops in AKU patients. Since 2020, the first-time treatment with nitisinone has become available in the European Union. Nitisinone significantly reduces HGA production and arrests ochronosis in AKU patients. However, blocking of the tyrosine metabolic pathway by the drug leads to tyrosine plasma and tissue concentrations increase. The nitisinone-induced hypertyrosinemia can lead to the development of corneal keratopathy, and once it develops, the treatment needs to be interrupted. A decrease in overall protein intake reduces the risk of the keratopathy during nitisinone-induced hypertyrosinemia in AKU patients. The low-protein diet is not only poorly tolerated by patients, but over longer periods, leads to a severe muscle loss and weight gain due to increased energy intake from carbohydrates and fats. Therefore, the development of novel nutritional approaches is required to prevent the adverse events due to nitisinone-induced hypertyrosinemia and the negative impact on skeletal muscle metabolism in AKU patients.
Identifiants
pubmed: 36966367
pii: enr-2023-0008
doi: 10.2478/enr-2023-0008
doi:
Substances chimiques
nitisinone
K5BN214699
Tyrosine
42HK56048U
Homogentisic Acid
NP8UE6VF08
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
61-67Informations de copyright
© 2023 Richard Imrich et al., published by Sciendo.
Références
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