18 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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... use in cellular metabolism ... via anaerobic metabolism ... Abdominal pain, gastrointestinal ... includes symptoms of metabolic
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Myocarditis Metabolic ... Inborn Errors of Metabolism ... Tract Infection Gastrointestinal ... Algorithm #Causes #Peds
Pediatric Vomiting - Gastrointestinal and Systemic Causes - Differential Diagnosis Algorithm
Hepatobiliary:
 • Acute Hepatitis
 • Acute
Pediatric Vomiting - Gastrointestinal ... Pancreatitis Upper Gastrointestinal ... Hernia Lower Gastrointestinal ... malrotation Endocrine/Metabolic ... Algorithm #Causes #Peds
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
pathway (GI = gastrointestinal ... and decreased metabolism ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Pulmonary Anomaly • Metabolic ... • Sepsis • Gastrointestinal ... Algorithm #Causes #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics