35 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
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis of Metabolic ... Disorders #Diagnosis #Peds ... Inherited #Congenital #Metabolism ... #Metabolic #Diseases ... #Differential #Algorithm
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
Causes of Provoked Pediatric Seizures - Differential Diagnosis Algorithm - "DIMS" Mnemonic
Drugs:
 • Drug overdose
 •
Differential Diagnosis Algorithm ... - "DIMS" Mnemonic ... Encephalitis Metabolic ... Syndrome #DIMS #Mnemonic ... #Causes #Peds #
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Differential Diagnosis Algorithm ... Myocarditis Metabolic ... Inborn Errors of Metabolism ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Inborn Errors of Metabolism ... #Diagnosis #Peds ... #EM #Genetics # ... Inborn #Errors #Metabolism
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Excessive vomiting - Metabolic ... - Gitelman SIGNS ... increase may cause metabolic ... decrease may cause metabolic ... #Pathophysiology
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
• Incr Glucose Metabolism ... Syndrome - Metabolic ... Syndrome #diagnosis #pathophysiology ... #symptoms #signs
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics