Table 2.

Age-Related Plasma Amino Acid Concentrations in ASL Deficiency

MetaboliteNormal Plasma Levels Age <2 Years (µmol/L) 1Normal Plasma Levels Age 2-18 Years (µmol/L) 1In ASL Deficiency
Citrulline2-416-38Elevated
Argininosuccinic acid0-10-1Elevated 2
Arginine42-13218-127Low to normal
Glycine104-34492-346Normal to high
Glutamine238-842266-746Normal to high
Alanine148-420103-528Normal to high
1.

The values depicted are only representative of the normal ranges; the normal references of individual laboratories should be used for clinical interpretation.

2.

The argininosuccinate chromatographic peak may co-elute with leucine or isoleucine, resulting in an apparent increase in one of these two amino acids. The anhydrides that elute later in the run allow for the correct identification of argininosuccinate.

From: Argininosuccinate Lyase Deficiency

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