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

A table of lab values compiled from UpToDate and
A table of lab ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... free fatty acid metabolism ... = nonspecific (nausea ... infiltration) Differential ... Liver #Pregnancy #hepatology
Rhabdomyolysis - Differential Diagnosis and Management Summary

Trauma:
 • Immobilization, Crush iniury, Compartment syndrome, Electrical injury
Exertional:
 •
Rhabdomyolysis - Differential ... Diagnosis and Management ... , Heat stroke, Metabolic ... Dermatomyositis) AKI - Pathophysiology ... #Summary #causes
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... or refractory cases
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... Delivery • Stable ... teratogenic GDMT meds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... Drug toxicity, Metabolic ... the underlying cause ... Syndrome #diagnosis #management
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
pharmacogenetic disease caused ... by genetic susceptibility ... ryanodine receptor) & triggered ... Toxidromes #comparison #table ... #diagnosis #differential