Early diagnosis of inborn errors of metabolism in neonatal Period

Objective To improve pediatricians' knowledge of inborn errors of metabolism in neonatal period. Make the diagnosis and treatment as early as possible. Methods Eighteen newborn babies admitted to our hospital were suspected of inborn errors of metabolism according to their clinical features. Their urine samples were collected with filter paper set, then mailed to the lab for GC/MS analysis. Results five out of 18 were confirmed to be inborn errors of metabolism. They were omithine carbamoyltransferase deficiency(OCTD) (66 h, male), glutaricacidemia II (46 h, male), maple syrup urine disease(8 d, male), methylmalonic acidemia(13 d, male), propionic acidemia(21d, female). Their clinical features were also summarized. Conclusion Alert to clinical features and to do screening with GC/MS analysis will benefit for early diagnosis and treatment of inborn errors of metabolism.