UMEM Educational Pearls

Category: Pediatrics

Title: Inborn Errors of Metabolisn

Keywords: Inborn Errors of Metabolism, Hypoglycemia, organomegaly (PubMed Search)

Posted: 7/14/2007 by Sean Fox, MD (Emailed: 7/8/2007) (Updated: 4/12/2024)
Click here to contact Sean Fox, MD

Inborn Errors of Metabolism For the child with neurologic abnormalities, vomiting, acidosis, hypoglycemia, organomegaly, or cardiopulmonary arrest remember to consider Inborn Errors of Metabolism (IEM) on your DDx. There are over 300 disorders of the various biochemical pathways, and while the individual incidence for each disorder may be rare, the collective incidence for IEM is 1-2 / 1,000 births. Treat dehydration and hypoglycemia promptly but FIRST, draw EXTRA blood samples (at UMMS, two adult Green Tops and one adult Red Top) in addition to the basic labs. ==> Once you begin therapy to correct the acid/base disturbance, hypoglycemia, and dehydration the abnormal metabolites present in their serum will be reduced and possibly confound the diagnosis. ==> Draw the extra blood, before your give the NS bolus or the Dextrose! ==> Basic Labs (1) ABG, BMP, Ammonia, U/A are helpful immediately (2) CBC, Blood and Urine Cultures (look for concurrent infection, possibly the inciting event) (3) Urine Reducing Substances, serum organic acids, urine and serum amino acids are also useful