22 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 ... #Neonatology #Peds
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... presentations in acute metabolic ... #Pediatrics #Metabolism ... #Diagnosis #Algorithm ... #Neonatology #Peds
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Differential Diagnosis Algorithm ... Myocarditis Metabolic ... Inborn Errors of Metabolism ... • Reye's Syndrome ... #Causes #Peds #
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... diagnosis #management #cardiology ... #peds #pediatrics ... #treatment
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Differential Diagnosis Algorithm ... Pulmonary Anomaly • Metabolic ... Sudden Infant Death Syndrome ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Differential Diagnosis Algorithm ... • Turner Syndrome ... Panhypopituitarism Treatment ... CHF) • Inborn Metabolism ... Differential #Diagnosis #Algorithm
Causes of Pediatric Seizures - Differential Diagnosis Algorithm
Infantile:
 • Benign Focal Epilepsy of Infancy
 • West
Differential Diagnosis Algorithm ... • Dravet Syndrome ... Encephalitis Provoked - Metabolic ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
Causes of Fatigue - Differential Diagnosis Algorithm
Endocrine
 • Hypo/Hyperthyroidism
 • Diabetes
 • Pituitary Insufficiency
 • Adrenal
Differential Diagnosis Algorithm ... Insufficiency Metabolic ... Myasthenia Gravis Pharmacologic ... Chronic Fatigue Syndrome ... Differential #Diagnosis #Algorithm
Causes of Pericarditis - Differential Diagnosis Algorithm
Viral:
 • Coxsackie
 • Echovirus
 • Adenovirus
 • Epstein-Barr virus
Differential Diagnosis Algorithm ... Post-cardiac injury syndrome ... • Dissection Metabolic ... Differential #Diagnosis #Algorithm ... #Causes #Cardiology
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology