Inherited metabolic disorders in a cohort of Egyptian children

Egyptian Liver Journal

Table 3 Laboratory and metabolomics findings in patients with organic acidemias

Defect	Preliminary laboratory finding	MS/MS acylcarnitine profile	MS/MS amino acids profile	GC/MS assessment of organic acids
GA	Metabolic acidosis, low levels of bicarbonate with high anion gap	Increased C5DC	NR	Elevated glutaric acid, 3-hydroxy-glutaric acid
PPA	Metabolic acidosis, ketosis, hyperammonemia	increased C3and C3:C2	High glycine	Elevated 3-hydroxy-propionic acid, propionyl glycine, methylcitric acid
MMA	Metabolic acidosis, hyperammonemia	Increased C3	Increased alanine and glycine	Elevated methylmalonic acid, methylcitric acid, 3-hydroxy-propionic acid, propionyl glycine
IVA	Metabolic acidosis, hyperammonemia, normal lactate	Increased C5	NR	Elevated isovalerylglycine(mono and di derivative) 3-hydroxy-isovaleric acid
MCG	Metabolic acidosis hyperammonemia	increased C5-OH	NR	Elevated lactic acid, 3-hydroxy-isovaleric, 3-methylcrotonylglycine, methylcitric acid
OA	Metabolic alkalosis, hyperammonemia	NR	Low citrulline, and high arginine in four patients	Elevated orotic acid

GA glutaric acidemia, PPA propionic acidemia, MMA methylmalonic acidemia, IVA isovaleric acidemia, MCG methylcrotonyl glycinuria, OA orotic acidemia, NR not remarkable, C2 acetyl carnitine, C3 propionylcarnitine, C5 isovalerylcarnitine, C5DC glutarylcarnitine dicarboxylate, C5OH hydroxy isovalerylcarnitine