NMR-based urinalysis for beta-ketothiolase deficiency

This case illustrated that NMR-based urinalysis is complementary to organic acid analysis for diagnosis of beta-ketothiolase deficiency. The operation of NMR is simple and fast; sample preparation is a two-step procedure while the NMR acquisition is automatic and usually takes < 15 min. We envisage that NMR analysis will become more available in clinical laboratories and will play an important role in acute pediatric care.