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[Selective screening for amino and organic acid inborn errors].

G F Hoffmann1, F K Trefz, D Rating

  • 1Universitäts-Kinderklinik, Heidelberg, Bundesrepublik Deutschland.

Wiener Klinische Wochenschrift
|January 1, 1992
PubMed
Summary

Aminoacidopathies and organoacidopathies are serious neonatal metabolic disorders. Early diagnosis relies on high suspicion and specialized testing due to non-specific symptoms, aiding in timely intervention for affected infants.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • Aminoacidopathies and organoacidopathies are common, life-threatening inborn errors of metabolism in newborns.
  • Current incidence figures in Germany suggest underdiagnosis, particularly for organoacidopathies.
  • Neonatal population screening is currently impractical due to complexity and cost.

Purpose:

  • To summarize clinical and laboratory findings of aminoacidopathies and organoacidopathies.
  • To present an algorithm for the rapid diagnosis of acute inborn errors of metabolism.
  • To highlight the importance of selective screening and collaborative diagnosis.

Summary:

  • Inborn errors of metabolism present non-specific symptoms, often as acute illness in neonates or neurological issues in older children.

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  • Selective screening relies on clinical suspicion, but definitive diagnosis requires comprehensive analysis and specialist collaboration.
  • Diagnostic approaches may involve multiple tests on various physiological fluids and potentially loading tests.

    • Impact:

    • Facilitates earlier identification of inborn errors of metabolism.
    • Improves diagnostic accuracy through a structured approach.
    • Enhances patient outcomes by enabling timely and appropriate management strategies.