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Aminotransferase trends in propionic acidemia.

Maria P Silva^1,2, Carolyn R Raski^1,2, Joel Charrow^1,2

¹Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

American Journal of Medical Genetics. Part A

|May 9, 2024

Summary

This summary is machine-generated.

Aminotransferase elevations are common in propionic acidemia and can persist after acute illness. These elevations did not predict hospitalization severity or readmission, suggesting further research is needed for their clinical utility.

Keywords:

inherited errors of amino acid metabolism liver abnormalities propionic acidemia

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Area of Science:

Biochemistry
Metabolic Disorders
Pediatric Gastroenterology

Background:

Propionic acidemia (PA) is a rare metabolic disorder with significant acute and chronic health issues.
Liver function abnormalities in PA are poorly understood, with limited data on aminotransferase trends.
The clinical and prognostic value of liver function tests in PA management is currently unknown.

Purpose of the Study:

To investigate aminotransferase trends in patients with propionic acidemia.
To evaluate the utility of aminotransferases in predicting disease severity and outcomes during hospitalization.

Main Methods:

Retrospective analysis of aminotransferase levels in 12 patients with propionic acidemia.
Data collected during hospital admissions and routine outpatient visits.
Classification and trend analysis of aminotransferase values.

Main Results:

Aminotransferase elevations were frequently observed in the studied propionic acidemia population.
Elevated aminotransferases often persisted beyond the acute phase of illness.
Aminotransferase levels during hospitalization did not correlate with disease severity, length of stay, or 30-day readmission rates.

Conclusions:

Aminotransferase elevations are a common finding in propionic acidemia, extending beyond acute episodes.
Current data suggest aminotransferases may not be reliable predictors of acute illness severity or short-term outcomes in PA.
Further research is warranted to clarify the role of aminotransferases in PA monitoring and therapeutic strategies.