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Investigation

Authoring team

Investigations include:

  • FBC - neutropaenia and thrombocytopaenia (high levels of organic acids cause bone marrow suppression)
  • Biochemistry - hypoglycaemia may be present; check amylase if pancreatitis suspected
  • ammonia - raised, can be >1000 micromol/L
  • blood gas - primary metabolic acidosis, raised anion gap (usually >25 mmol/L); lactate may be raised but will only account for part of the anion gap increase
  • urinary ketones - present
  • carnitine - overall plasma levels decreased; proportion of esterified to non-esterified carnitine markedly increased
  • plasma amino acids - increased glycine concentration
  • urinary organic acids - will show a profile typical of the disorder

Reference

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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