14 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
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 ... Pediatrics #Table #IEM
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
Causes of Rhabdomyolysis ... malignant neuroleptic syndrome ... (myositis) • Metabolic ... Disorders (Diabetic ... hypothyroidism) • Genetic
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
Ketosis Disorders
Ketone bodies are a normal metabolic energy source. Excessive unregulated production of ketones, often accompanied
bodies are a normal metabolic ... of re-feeding syndrome ... • Diabetic ketoacidosis ... (DKA) - caused ... diagnosis #management #endocrinology
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Diabetic Ketoacidosis ... Due to neuronal metabolism ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology ... #diabetes
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
although hepatic causes ... and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Electrolyte/fluid shifts caused ... from hormonal and metabolic ... changes and may cause ... Poorly controlled diabetes ... Differential #Diagnosis #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
, including a diuretic ... hypokalemia and metabolic ... Vasculitis • Endocrinologic ... White-coat syndrome ... Guillain-Barre Syndrome