Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

Objectives To present the very long‐term follow up of patients with cobalamin A (cblA) deficiency. Methods A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency. Results We included 23 patients (mean age: 27 ± 7.6 years; mean follow‐up:...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of inherited metabolic disease 2022-09, Vol.45 (5), p.937-951
Hauptverfasser: Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Format: Artikel
Sprache:eng
Schlagworte:
Aciduria
Adult
cobalamin A deficiency
Intellectual disabilities
kidney disease
Kidneys
late‐onset
mental retardation
Methylmalonic aciduria
Patients
Pediatrics
Renal failure
Renal insufficiency
Supplements
Vitamin B12
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Objectives To present the very long‐term follow up of patients with cobalamin A (cblA) deficiency. Methods A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency. Results We included 23 patients (mean age: 27 ± 7.6 years; mean follow‐up: 24.9 ± 7.6 years). Disease onset was mostly pediatric (78% 
ISSN:0141-8955
1573-2665
DOI:10.1002/jimd.12525