6 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... 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 ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup ... - Differential ... Diagnosis Algorithm ... High Magnesium - Functional ... Hypoparathyroidism: Autoimmune, Genetic
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Diagnosis and workup ... impaired executive functions ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... Low #Magnesium #Table ... #Classification ... #Causes #Workup
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... during Delivery • Stable ... studies show no ↓ LV function ... teratogenic GDMT meds