11 results
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 ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors #Metabolism
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... presentations in acute metabolic ... #Metabolism #MetabolicEmergency ... #Diagnosis #Algorithm ... #Differential #
Metabolic Alkalosis - Differential Diagnosis Algorithm - Urinary Chloride
 • Cl- responsive metabolic alkalosis
Metabolic Alkalosis ... metabolic alkalosis ... Post-hypercapneic metabolic ... - resistant metabolic ... • Normal gap metabolic
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
Metabolic Alkalosis ... Algorithm Cl- ... responsive metabolic ... #urine #Algorithm ... #nephrology #differential
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Diagnosis Algorithm ... Myocarditis Metabolic ... Inborn Errors of Metabolism ... Neurologic: • Seizure ... #Causes #Peds #Pediatrics
Causes of Provoked Pediatric Seizures - Differential Diagnosis Algorithm - "DIMS" Mnemonic
Drugs:
 • Drug overdose
 •
Causes of Provoked Pediatric ... Seizures - Differential ... Diagnosis Algorithm ... Encephalitis Metabolic ... #Diagnosis #Algorithm
Causes of Pediatric Seizures - Differential Diagnosis Algorithm
Infantile:
 • Benign Focal Epilepsy of Infancy
 • West
Causes of Pediatric ... Seizures - Differential ... Diagnosis Algorithm ... Encephalitis Provoked - Metabolic ... #Diagnosis #Algorithm
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Differential Diagnosis ... Algorithm Normal ... CHF) • Inborn Metabolism ... #Diagnosis #Algorithm ... endocrinology #causes #pediatrics
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
hypomagnesemia • Metabolic ... Hypochloremic metabolic ... Hypocalciuria (spot ... ratio 0.5%) Differential ... tachycardia • Seizures
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
• Headache • Seizures ... Etiology: • Pathophysiology ... Anterior circulation: MCA ... Reversible course Differential ... Drug toxicity, Metabolic