6 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... Pediatrics #Table #IEM
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Event (ALTE) - Differential ... Diagnosis Algorithm ... Disturbances Neurologic ... : • Seizure ... #Causes #Peds #
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Reversible course Differential ... Drug toxicity, Metabolic ... : Treat with AEDs
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Strenuous exercise, Seizures ... Compression • Genetic ... Glycogenolysis, Lipid metabolism ... Amphetamines, LSD UW IM ... Diagnosis #Causes #nephrology
Gitelman Syndrome Overview

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