48 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 ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
Ethylene Glycol Toxicity

#Pathophysiology #Toxicology #EthyleneGlycol #Metabolism #Fomepizole
Glycol Toxicity #Pathophysiology ... #Toxicology #EthyleneGlycol ... #Metabolism #Fomepizole
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... use in cellular metabolism ... also includes symptoms ... of metabolic acidosis ... LacticAcidosis #Toxicity #Toxicology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Carbon Monoxide Poisoning

Symptoms are non-specific:
 - Headache 90%
 - Nausea/vomiting 50%
 - Vertigo 50%
 - Altered
Monoxide Poisoning Symptoms ... affected (inc pets ... Outdoors improves symptoms ... Monoxide #Poisoning #Toxicology
Colchicine Toxicity 
Naturally-occurring plant alkaloid [Autumn Crocus and Glory Lilly]
2-24 hrs 
 • Severe GI distress
Renal failure • Metabolic ... Colchicine #Toxicity #Toxicology ... #Symptoms #Signs
Salicylate metabolism.
#Pathophysiology #Metabolism #Toxicology #Salicylate #Aspirin
Salicylate metabolism ... #Pathophysiology ... #Metabolism #Toxicology