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Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant

Olivia Wenger1, Miraides Brown2, Brandon Smith3

  • 1New Leaf Clinic, PO Box 336, 16014 East Chestnut Street, Mount Eaton, OH, 44691, USA; Department of Pediatrics, Akron Children's Hospital, 214 West Bowery Street, Akron, OH 44308, USA.

Molecular Genetics and Metabolism
|October 31, 2020
PubMed

Insights

Propionic acidemia (PA) treatment has limited impact on core biomarkers. Standard metabolic markers and cardiac outcomes require further study with standardized approaches for better understanding disease burden.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Propionic acidemia (PA) is an inherited metabolic disorder.
  • It results from propionyl-CoA carboxylase (PCC) deficiency.
  • PA causes significant neurodevelopmental and cardiac issues.

Purpose of the Study:

  • To understand the relationship between therapeutic interventions, biochemical markers, and disease progression in PA.
  • To characterize the biochemical phenotype of untreated PCCB c.1606A>G variant PA.
  • To assess the impact of treatment on PCC deficiency biomarkers.

Main Methods:

  • Sixteen individuals with PA (homozygous for PCCB c.1606A>G variant) underwent a two-week therapy suspension.
  • Standard metabolic markers were measured before and after suspension.
  • Echocardiography and electrocardiography were performed.

Main Results:

  • Therapy suspension did not significantly alter branched-chain amino acid levels or their derivatives.
  • Carnitine supplementation increased urine propionylcarnitine.
  • Methylcitrate levels did not correlate with other biochemical measures or cardiac outcomes.

Conclusions:

  • Current therapeutic regimens for PA have a limited effect on core biomarkers.
  • Further longitudinal studies with standardized methods are needed to understand biomarker-disease burden relationships.

Keywords:
BiomarkerPhenotypePropionic acidemiaTreatment

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