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[Blood propionic acid with hyperammonemic coma].

S Stöckler1, U Kastner, B Pokits

  • 1Universitäts-Kinderklinik Graz.

Klinische Padiatrie
|September 1, 1987
PubMed
Summary
This summary is machine-generated.

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A newborn with poor feeding and breathing issues was diagnosed with propionic acidemia, a metabolic disorder. Definitive diagnosis required observing specific metabolites during a protein challenge, confirmed by enzyme analysis.

Area of Science:

  • Biochemistry
  • Clinical Medicine
  • Genetics

Background:

  • Newborns can present with metabolic disorders affecting feeding and breathing.
  • Organoacidopathias are a class of metabolic diseases characterized by the buildup of organic acids.

Observation:

  • A mature male newborn exhibited poor feeding and acidotic breathing on day two of life.
  • Laboratory results revealed severe metabolic acidosis, hyperammonemia, hyperglycinemia, ketonuria, and elevated urinary lactate and propionate.

Findings:

  • The clinical presentation and initial lab findings suggested an organoacidopathia.
  • Propionic acidemia was definitively diagnosed by identifying characteristic metabolites during a protein-induced hyperammonemic coma.
  • Enzyme assays on skin fibroblasts confirmed reduced propionate fixation and propionyl-CoA-carboxylase activity.

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Implications:

  • Early diagnosis of propionic acidemia is crucial for timely intervention.
  • Understanding metabolic pathways is key to diagnosing and managing inborn errors of metabolism.
  • This case highlights the importance of metabolic challenges in diagnosing certain genetic disorders.