7 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 ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Table #IEM #NICU
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... Low #Magnesium #Table ... #Classification
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification ... Workup #Diagnosis #Geriatrics
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... pregnancy • May have typical ... during Delivery • Stable
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Rhabdomyolysis - Differential ... Differential Diagnosis ... Compression • Genetic ... Diagnosis #Causes #nephrology ... #table
Pragmatic diagnostic algorithm for hypokalemia. 
***Typical presentations: 
 • Vomiting: urine Na/Cl > 1.6, low urine
***Typical presentations ... confirmed via genetic ... hypokalemia #diagnosis #differential ... #algorithm #nephrology