Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

Abstract Background Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prev...

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Bibliographic Details
Main Authors: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide, Mercedes Martínez-Pardo
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Propionic acidemia
Anemia
Diet
Protein-restricted
Branched-chain amino acids imbalance
Online Access:https://doi.org/10.1186/s13023-021-01865-7

Internet

https://doi.org/10.1186/s13023-021-01865-7

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