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Table 3 Clinical laboratory findings in patients with PA, MMA, or UCDs (modified from Baumgartner et al. 2014 [3])

From: Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

  PA/MMA UCDs
Hyperammonaemia + to ++ ++
Acidosis + +/−
Ketonuriaa ++/+++
Hypoglycaemia +/−
Increased lactateb +
Increased AST and ALT +/− +
Increased uric acid +
Decreased blood cell counts +
  1. Abbreviations: ALT Alanine transaminase, AST Aspartate transaminase, MMA Methylmalonic acidaemia, PA Propionic acidaemia, UCDs Urea cycle disorders
  2. aKetonuria ++/+++ suggests OA in neonates
  3. bPlasma lactate > 6 mmol/L (levels of 2–6 mmol/L may be due to severe crying or extensive muscle activity)