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 ... #InbornErrors ... 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 ... Peds #Pediatrics #Table ... #IEM #NICU #InbornErrors
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Differential Diagnosis Workup ... Algorithm Primary ... Adrenoleukodystrophy, genetic ... disorder • CAH ... #Algorithm #endocrinology
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup ... Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... , Infiltrative disorders ... #Hypocalcemia #Workup
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... Diagnosis and workup ... hallucinations - Movement disorders ... hyperorality, - 25% genetic ... Differential #Subtypes #Classification
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Low #Magnesium #Table ... #Classification ... #Causes #Workup