Peds I- Inborn Errors of Metabolism and Endocrinology

Don’t be overwhelmed knowing/memorizing each inborn error of metabolism. The basic approach is actually quite easy!!! Inborn Errors of Metabolism (IEM) * Almost always result in one of the following three clinical abnormalities* Buildup of toxins* Ammonia* To test for this, obtain an ammonia level* Buildup of acids* Methylmalonic acidemia* To test for this, obtain electrolyte panel and look for decrease CO2* Shortage of glucose* Glycogen storage disorders* To test for this, obtain a blood glucose level Congenital Adrenal Hyperplasia (CAH) * Decreased 21-hydroxylase enzyme* Physiologic abnormalities* Decreased aldosterone* Low sodium (hyponatremia)* High potassium (hyperkalemia)* Decreased cortisol* Low glucose level* Hyperpigmentation* INCREASED sex hormone (androgens)* Fused labia* Partial male genitalia Additional Reading * Congenital Adrenal Hyperplasia (Wikipedia)