29 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Erythrocytosis - Polycythemia Differential Diagnosis Algorithm

Elevated Hemoglobin:
 • Males: Hb > 16.5 g/dL/HCT ≥ 49%
 •
Differential Diagnosis ... Algorithm Elevated ... Hemoglobin: • Males ... ), TEMPI (VEGF normal ... #Diagnosis #Algorithm
Causes of Polycythemia (Erythrocytosis) - Differential Diagnosis Algorithm
Relative - Normal RBC Mass / Decreased Plasma Volume
Causes of Polycythemia ... Erythrocytosis) - Differential ... Diagnosis Algorithm ... Erythrocytosis #Differential ... #Diagnosis #Algorithm
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Differential #
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... or High Renin, Normal ... Sulfamethoxazole - Genetic ... Hypoaldosteronism #Differential ... #Aldosterone #Comparison
Polycythemia - Differential Diagnosis Algorithm
Polycythemia itself isn’t a diagnosis. Like many things, it is a condition
Polycythemia - Differential ... Diagnosis Algorithm ... that a one-off value ... exogenous, EPO levels: normal ... #Differential #
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
- Differential ... Diagnosis Algorithm ... Triglycerides - Genetic ... LipidProfiles #Differential ... #Diagnosis #Algorithm
Causes of Splenomegaly - Differential Diagnosis Algorithm
Infectious
 • Bacterial
 • Viral (EBV)
 • Parasitic
 • Fungal
Congestive
Splenomegaly - Differential ... Diagnosis Algorithm ... Hepatic, Portal, ... disorders (eg. polycythemia ... #Diagnosis #Algorithm
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Gestational Age - Differential ... Diagnosis Algorithm ... >41 weeks) • Genetic ... Hypoglycemia • Polycythemia ... #Diagnosis #Algorithm
Blood Disorders - Markers and Differential Diagnosis Algorithm 
Acute
 • Myloid (AML) - CD13, CD33, CD34,
- Markers and Differential ... Diagnosis Algorithm ... bcr-able (-) - Polycythemia ... hematology #Markers #Differential ... #Diagnosis #Algorithm