8 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis ... #Peds #Pediatrics ... #Inherited #Congenital ... Disorders #Ketones #Ammonia ... #Differential #
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential ... #Diagnosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... Laboratory #Patterns #diagnosis
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework

Hematologic & Vascular:
 • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Diagnosis Framework ... metabolism) • Congenital ... Hyperammonemia #ammonia ... Diagnosis #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... heart disease • Congenital ... Genetic predisposition ... teratogenic GDMT meds ... Cardiomyopathy #diagnosis
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
thrombosis - Congenital ... - Mendelian genetic ... Causes #Secondary #diagnosis ... #differential # ... age #pediatrics #peds