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Table 1 Biochemical biomarker of PA and MMA

From: Prevalence of propionic acidemia in China

Potential biomarkers

PA

MMA

Organic acids

  

 2‐methylcitric acid

 Methylmalonic acid

_

↑↑

 Propionic acid

↑↑

 3‐hydroxypropionic acid

Conjugates

  

 Propionylglycine

 Ketonuria

↑↑

Carnitine panel

  

 Acetylcarnitine (C2)

 Propionylcarnitine (C3) and C3/C2 ratio

↑↑

↑↑

 Methylmalonylcarnitine

_

↑↑

Acyl‐CoAs

  

 Propionyl‐CoA

↑↑

 Methylmalonyl‐CoA

↑↑

 Odd‐numbered long‐chain fatty acids

 Acetyl‐CoA

Tricyclic acid (TCA) cycle intermediates

  

 Citric

 Ketoglutaric

 Succinic

 Malic acid

 Ammonium

 Lactic acid

Amino acids

  

 Alanine:Serine

 Alanine:Lysine

 Glycine