Updates and advances in pyruvate kinase deficiency.
Trends Mol Med
; 29(5): 406-418, 2023 05.
Article
de En
| MEDLINE
| ID: mdl-36935283
ABSTRACT
Mutations in the PKLR gene lead to pyruvate kinase (PK) deficiency, causing chronic hemolytic anemia secondary to reduced red cell energy, which is crucial for maintenance of the red cell membrane and function. Heterogeneous clinical manifestations can result in significant morbidity and reduced health-related quality of life. Treatment options have historically been limited to supportive care, including red cell transfusions and splenectomy. Current disease-modifying treatment considerations include an oral allosteric PK activator, mitapivat, which was recently approved for adults with PK deficiency, and gene therapy, which is currently undergoing clinical trials. Studies evaluating the role of PK activators in other congenital hemolytic anemias are ongoing. The long-term effect of treatment with disease-modifying therapy in PK deficiency will require continued evaluation.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Erreurs innées du métabolisme du pyruvate
/
Anémie hémolytique congénitale non sphérocytaire
Aspects:
Patient_preference
Limites:
Adult
/
Humans
Langue:
En
Journal:
Trends Mol Med
Sujet du journal:
BIOLOGIA MOLECULAR
Année:
2023
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique