8 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... comparison #treatment #Peds ... Endocrinology #Adrenal #pathophysiology
Causes of Polyneuropathy - Differential Diagnosis Algorithm
 • Metabolic: DM, Hypothyroidism, CKD, Cirrhosis, Nutritional deficiency
 •
Causes of Polyneuropathy ... Differential Diagnosis Algorithm ... • Toxic: EtOH, Meds ... Charcot-Marie Tooth ... #causes #neurology
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Differential Diagnosis Algorithm ... Syndromic • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
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
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Genetic predisposition ... during Delivery • Stable ... teratogenic GDMT meds
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
serotoninergic meds ... pharmacogenetic disease caused ... by genetic susceptibility ... Toxidromes #comparison #table