抄録
The majority of organic acidurias, as inherited metabolic diseases, are characterized by an acute life-threatening illness in the newborn and infants. A diagnosis cannot be made on the basis of clinical features alone because many of the diseases are accompanied by similar clinical symptoms and signs. Investigation of the urinary organic acids in these patients is therefore important for early diagnosis and effective treatment. The organic acidurias have been diagnosed and chemically characterized primarily by means of gas chromatography-mass spectrometry.
We have developed computer programs for automated identification and quantification of urinary organic acids and for an automated diagnostic system for organic acidurias. We here report on the advantages of this system and our experience in screening for organic acidurias with the use of this system.
