3 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... #Diagnosis #Algorithm ... #Differential # ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Hypochloremic metabolic ... Hypocalciuria (spot ... ratio 0.5%) Differential ... tachycardia • Seizures ... nephrology #management #pathophysiology