7 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... Pediatrics #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... Pediatrics #Table #NICU ... #Genetics #IEM
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Primary Biliary Cirrhosis ... Smoking, Microbial triggers ... DNA methylation Genetic ... Primary #Biliary #Cirrhosis ... #hepatology
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
Tests (LFTs) - Differential ... • NAFLD • Cirrhosis ... 500-1000): • Genetic ... /Metabolic Hepatopathy ... #Diagnosis #hepatology
Patterns of Liver Injury
Transaminase Levels:
  > 50x normal - Ischemic Hepatitis
  > 20x normal
CMV), Alcoholic cirrhosis ... Hemolysis, NASH, Genetic ... / Metabolic. ... Liver #Injury #hepatology ... transaminitis #differential
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... organ dysfuxtion, ICU ... diagnosis #management #hematology
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
serotoninergic meds ... disease caused by genetic ... ryanodine receptor) & triggered ... anesthetics by Nick ... table #diagnosis #differential