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

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Associated Lactic Acidosis ... (MALA) Pathophysiology ... use in cellular metabolism ... also includes symptoms ... of metabolic acidosis
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Euglycemic Diabetic Ketoacidosis (EuDKA)
SGLT2 Inhibitors
Increasing Indications
Significant Adverse Drug Effects
Definition of EuDKA
 • Metabolic acidosis with pH
Definition of EuDKA • Metabolic ... acidosis with pH ... level < 200 mg/dL Pathophysiology ... diagnosis #management #endocrinology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... free fatty acid metabolism ... Intermediate fatty acid metabolism ... postpartum): • Initial symptoms ... Monitor and Treat Complications
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
• Incr Glucose Metabolism ... Syndrome - Metabolic ... Acidosis • Shift ... Syndrome #diagnosis #pathophysiology ... #symptoms #signs
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms ... #endocrinology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... thickness) - metabolic ... #FeedbackLoop #endocrinology ... #pathophysiology