4 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
adrenal glands • Salt ... infants with "salt ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Differential Diagnosis Algorithm ... Intake: • Low salt ... Differential #Diagnosis #Algorithm ... #Pathophysiology