Dietary management and growth outcomes in children with propionic acidemia: A natural history study.

ABSTRACT:

Background

Propionic acidemia (PROP) is an autosomal recessive inherited deficiency of propionyl-CoA carboxylase (PCC) which is involved in the catalytic breakdown of the amino acids valine, isoleucine, methionine, and threonine. PROP nutritional management is based on dietary protein restriction and use of special medical formulas which are free of the offending amino acids, but are enriched in leucine. The resulting imbalance among branched-chain amino acids negatively impacts plasma concentrations of valine and isoleucine, which might impact growth in children with PROP.

Objective and methods

Our primary objective was to describe dietary protein and calorie intake and their impact on long-term growth outcomes of four PROP patients. This was accomplished through a longitud

SUBMITTER: Saleemani H 

PROVIDER: S-EPMC8411103 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature