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Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... See the lab values ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Table #IEM #NICU
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
transfusion Chorionic villus ... inborn error of metabolism ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Rapid Pediatric Assessment Diagram:
* Assessment of Appearance
  - Tone: Moves spontaneously, resists examination
  -
Rapid Pediatric ... - Cyanosis #Diagnosis ... #EM #Peds #Rapid ... Venn #Diagram #Metabolic
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Inborn Errors of Metabolism ... #Diagnosis #Peds ... #EM #Genetics # ... Inborn #Errors #Metabolism
Figure. An approach to the diagnostic use of echocardiography (echo). Rx indicates prescription; TEE, transesophageal
echocardiography; and
approach to the diagnostic ... endocarditis (IE ... prosthetic heart valves ... #Diagnosis #InfectiveEndocarditis ... Transesophageal #Echocardiogram
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
- Differential Diagnosis ... Compression • Genetic ... Glycogenolysis, Lipid metabolism ... malignant syndrome • Metabolic ... Amphetamines, LSD UW IM
Pyloric Stenosis
 • Most common b/w 2 wks - 2 months 
 • Projectile, non-bilious vomiting
Hypochloremic metabolic ... Diagnosis is made ... irritation of the vagus ... PyloricStenosis #Diagnosis ... #Peds #Pediatrics
Differential Diagnosis: New-Onset Seizure in the Elderly

STRUCTURAL:
 • Stroke/TIA, Subdural hematoma, mass
 • Traumatic Brain Injury
Differential Diagnosis ... METABOLIC - Electrolyte ... Sleep Disorders: REM ... #Differential #Diagnosis ... Elderly #Neurology #Geriatrics