42 results
Lab patterns seen in Inborn Errors of Metabolism

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

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Abnormal Lipid Profiles ... Differential Diagnosis Algorithm ... Triglycerides - Genetic ... #Dyslipidemia #Abnormal ... Differential #Diagnosis #Algorithm
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
individual carries the abnormal ... inheriting the abnormal ... #Inheritance #Genetics
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
regions suspected Genetics ... Diagnosis #Psychiatry #Signs
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Diagnosis #Peds #EM ... #Genetics #Inborn
Hemolytic Anemias - Differential Diagnosis Algorithm

Signs of anemia and hemolysis:
 • ↓ Haptoglobin
 • ↑ LDH
Differential Diagnosis Algorithm ... Signs of anemia ... Reticulocytes • Abnormal ... Differential #Diagnosis #Algorithm