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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)