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Propionic acidemia without acidemia: a case report

R Ramachandran1, J Pietz

  • 1Children's Medical Center, Dayton, OH 45404-1815, USA.

Journal of Perinatology : Official Journal of the California Perinatal Association
|January 1, 1995
PubMed
Summary
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Propionic acidemia, a metabolic disorder, typically presents with significant metabolic acidosis. This case report highlights an unusual presentation where metabolic acidosis was not a prominent feature, challenging typical diagnostic markers.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Propionic acidemia is an inherited metabolic disorder.
  • It is characterized by a wide range of clinical and biochemical findings.
  • Metabolic acidosis is a key diagnostic feature.

Observation:

  • This case report details a patient with propionic acidemia.
  • A notable observation was the absence of significant or persistent metabolic acidosis.
  • This finding contrasts with the typical presentation of the disease.

Findings:

  • The patient's presentation deviated from the expected metabolic acidosis profile.
  • This atypical finding complicates the differentiation from other metabolic disorders.
  • The case underscores the variability in propionic acidemia's clinical expression.

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Implications:

  • This case expands the understanding of propionic acidemia's phenotypic spectrum.
  • It suggests that diagnostic criteria may need to accommodate atypical presentations.
  • Further research is warranted to explore the mechanisms behind this variant presentation.