41 results
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 ... #InbornErrors #Metabolism ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... presentations in acute metabolic ... #Metabolism #MetabolicEmergency ... #Genetics #Pathophysiology ... #Neonatology #Peds
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis of Metabolic ... Disorders #Diagnosis #Peds ... #Pediatrics #Inherited ... #Congenital #Metabolism ... #Metabolic #Diseases
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
Hypoxic-ischemic encephalopathy (HIE) 

#HypoxicIschemic #encephalopathy #HIE #Neonatal #Peds #Pediatrics #Pathophysiology
encephalopathy #HIE #Neonatal ... #Peds #Pediatrics ... #Pathophysiology
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 ... includes symptoms of metabolic
Approach to the Sick Neonate (<1 month age)
1) Bring to Warmer, Call for Help
2) Apply Monitors
Approach to the Sick Neonate ... Thyroid) M - Metabolic ... Inborn Error of Metabolism ... #pediatrics #neonatal ... differential #diagnosis #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Poor suckling -> Neonatal ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Myocarditis Metabolic ... Inborn Errors of Metabolism ... Algorithm #Causes #Peds ... #Pediatrics