ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Mitochondrion
; 78: 101905, 2024 Sep.
Article
de En
| MEDLINE
| ID: mdl-38797357
ABSTRACT
Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mortality. A six-month-old infant presented with riboflavin unresponsive lactic acidosis and life-threatening cardiomyopathy. Treatment with high dose bezafibrate and nicotinamide riboside resulted in marked clinical improvement including reduced lactate and NT-pro-brain type natriuretic peptide levels, with stabilized echocardiographic measures. After a long stable period, the child succumbed from cardiac failure with infection at 10.5 months. Therapy was well tolerated. Peak bezafibrate levels exceeded its EC50. The clinical improvement with this treatment illustrates its potential, but weak PPAR agonist activity of bezafibrate limited its efficacy.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Composés de pyridinium
/
Bézafibrate
/
Acidose lactique
/
Nicotinamide
/
Cardiomyopathies
Limites:
Humans
/
Infant
/
Male
Langue:
En
Journal:
Mitochondrion
Année:
2024
Type de document:
Article
Pays de publication:
Pays-Bas