Investigation
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
- Venditti C et al. Propionic Acidemia. Gene Reviews (internet). May 2012, last update September 2024.
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