The diagnosis is based on the biochemical findings (increased concentrations of lysine, arginine and ornithine in urine and low concentrations of these amino acids in plasma, elevation of urinary orotic acid excretion after protein-rich meals, and inappropriately high concentrations of serum ferritin and lactate dehydrogenase isoenzymes) and the screening of known mutations of the causative gene from a DNA sample.
Lysinuric protein intolerance
Orotic aciduria
Non-celiac gluten sensitivity
Hereditary fructose intolerance
Glucose-galactose malabsorption
Glycogen storage disease
Fructose malabsorption
Protein poisoning