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 prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained. Bone marrow aplasia and anemia are among the more common.

Materials and methods

In this retrospective study, data for patients with PA being monitored at the Hospital Ramón y Cajal (Madrid, Spain) (n = 10) in the past 10 years were examined to statistically detect relationships between persistent severe anemia outsi

SUBMITTER: Stanescu S 

PROVIDER: S-EPMC8130149 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature