25 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 #
Causes of Provoked Pediatric Seizures - Differential Diagnosis Algorithm - "DIMS" Mnemonic
Drugs:
 • Drug overdose
 •
Differential Diagnosis Algorithm ... Encephalitis Metabolic ... • Sturge-Weber Syndrome ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
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 #
Uric Acid Homeostasis
In the liver, purines are metabolized to uric acid. The last step in purine
step in purine metabolism ... The gout drug pegloticase ... #Homeostasis #Gout ... #Pathophysiology ... #Pharmacology #
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm
Central Nervous System - Decreased LOC, Axial
Differential Diagnosis Algorithm ... Infection • Metabolic ... Other Congenital Syndromes ... Dystrophies • Metabolic ... #Causes #Peds #
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 #
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 Failure to Thrive - Differential Diagnosis Algorithm
Adequate Calorie Consumption
 - Increased Losses:
Differential Diagnosis Algorithm ... Utilize: • Metabolic ... Disorders • Syndromes ... Differential #Diagnosis #Algorithm ... #Causes #Peds #