Study of biochemical and hematological parameters of propionic academia patients at Tripoli Childrens Hospital - Libya

Abstract

Background: Propionic acidemia (PA) is an autosomal-recessive inborn error of metabolism resulting from a deficiency in propionyl coenzyme A carboxylase (PCC). It disrupts the metabolism of branched-chain amino acids and exhibits variable prevalence across different populations and geographic regions.

Objective: This retrospective study aimed to investigate the effect of sex and family history on clinical characteristics and metabolic profiles of PA among children at Tripoli Children's Hospital, Libya from 2011 to 2022.

Methodology: The methodology involved conducting a retrospective study of 25 patients who presented symptoms of PA and  Tripoli Children Hospital admission from 2011 to 2022.

Results: This retrospective research investigated potential gender-based differences and the impact of family history on various health parameters within 25 patients displaying symptoms of PA. Analysis of gender-based differences showed There is no statistically significant variations in cholesterol, triglycerides, alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), bilirubin, white blood cell count (WBC), hemoglobin (Hb), and platelet (PLT) levels. However, significant differences were observed in ammonia levels and arterial blood pH associated with family history (p = 0.005, p = 0.04), while other parameters did not exhibit significant variations based on family history. Additionally, the distribution of cases based on the diagnosis date revealed that the majority of cases (36%) were diagnosed between the years 2014 and 2016. Furthermore, 64% of the cases were born to consanguineous couples, suggesting a potential association between consanguinity and the development of PA.

Conclusion: This research highlights the effect of sex, family history and consanguineous couples on some biochemical and hematological parameters among PA patients. Although sex had no significant impact on the measured parameters, the family history was associated with elevated ammonia levels and acid-base balance. The present study expects the relationship between consanguineous marriage and the inherited factors of PA.