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Differential diagnosis and follow-up of patients with urea cycle disorders
Urea cycle disorders (UCD) are a group of inherited disorders of nitrogen detoxification that result from defects in any of the enzymes involved in the urea cycle.
Disruption of the urea cycle can result in the accumulation of ammonia which is toxic to the nervous system.
Plasma amino acid analysis can be used to aid in the diagnosis of a UCD as well as for follow-up of a known patient.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)