5 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Table #IEM #NICU
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Liver Function Tests ... Normal Values and Interpretation ... hepatocellular injury, genetic ... #Tests #LFTs #Laboratory ... #Values #Interpretation
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
deficiency, ... laboratory ... impaired executive functions ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Pragmatic diagnostic algorithm for hypokalemia. 
***Typical presentations: 
 • Vomiting: urine Na/Cl > 1.6, low urine
Pragmatic diagnostic algorithm ... confirmed via genetic ... in most cases; interpretation ... dependent upon local laboratory ... #differential #algorithm