6 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... Table #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Obesity -> Type 2 diabetes ... #genetics #pathophysiology ... #peds #pediatrics
Gitelman Syndrome - Diagnosis and Workup
Blood Work:
 - Hypokalemia
 - Hypomagnesemia
 - Metabolic Alkalosis
 - Elevated
Gitelman Syndrome ... Hypomagnesemia - Metabolic ... Normotensive - No diuretic ... echogenic kidneys Genetic ... dr_missyhanna #Gitelman #Syndrome
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis and Workup ... Diagnosis #Management #Endocrinology
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
Hypertension - Workup ... classes, including a diuretic ... hypokalemia and metabolic ... Vasculitis • Endocrinologic ... #Hypertension #Workup