52 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 ... of information: Pediatrics ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology
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 ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #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
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Associated Lactic Acidosis ... (MALA) Pathophysiology ... use in cellular metabolism ... via anaerobic metabolism ... acidosis including
Acid Base Disorders - Blood Gas Interpretation

Steps for Blood Gas Interpretation: 
1. Acidemia or Alkalemia? 
2.
Acidosis ↑ ↑ ... Acidosis <0.4 ... acidosis 0.4- ... Metabolic acidosis ... Classically” noted with pulmonary
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Kussmaul Breathing Pattern

Demonstration of Kussmaul breathing pattern seen here in Diabetic Ketoacidosis.  Initial pH was
associated with severe metabolic ... acidosis. ... Breathing #Pattern #Pulmonary
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
- CHF - Pulmonary ... • Incr Glucose Metabolism ... Syndrome - Metabolic ... Acidosis • Shift ... Syndrome #diagnosis #pathophysiology
Kussmaul Breathing in Lactic Acidosis
Acute non-cardiopulmonary dyspnoea. 70 ys, DM, vomiting and URQ abdominal pain since
Breathing in Lactic Acidosis ... severe lactic acidosis ... compensate for metabolic ... acidosis Dr. ... #PhysicalExam #Pulmonary