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A Rare Case of Propionic Acidemia in a Six Months Female Child

Sobia Irum1, Ambreen Rehman1, Muhammad Aamir1

  • 1Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|October 10, 2022
PubMed

Insights

Propionic acidemia, a rare metabolic disorder, was diagnosed in a 6-month-old girl presenting with severe symptoms. Diagnosis was confirmed through advanced metabolic testing, highlighting early detection importance.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Propionic acidemia (PA) is an inherited metabolic disorder resulting from propionyl-CoA carboxylase deficiency.
  • This enzyme defect leads to the accumulation of toxic metabolites from branched-chain amino acid metabolism.

Observation:

  • A 6-month-old infant girl presented with decreased feeding, lethargy, vomiting, failure to thrive, and seizures.
  • Initial investigations revealed pancytopenia, high anion gap metabolic acidosis, ketonuria, and hyperammonemia.

Findings:

  • Plasma amino acid analysis showed elevated glycine and lysine.
  • Urine organic acid analysis via gas chromatography-mass spectrometry (GCMS) revealed elevated 3-hydroxy propionate, methyl citrate, and 3-hydroxy, 2 methylbutyric acid, confirming PA.

Implications:

  • This case highlights the importance of early diagnosis of Propionic Acidemia in infants presenting with non-specific metabolic symptoms.
  • Advanced diagnostic techniques like GCMS are crucial for identifying specific organic acidurias.
  • Timely diagnosis and management can improve outcomes for patients with PA.

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