49 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic ... Aldosterone #Comparison #Table
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... management #cardiology #peds
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Differential Diagnosis Algorithm ... Syndromic • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
- Various rare genetic ... - Various rare genetic ... Differential #Diagnosis #Table
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Screening Algorithm ... Ashkenazi #Jewish #Genetic ... #Screening #Algorithm
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Diagnosis #Workup #Algorithm