18 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... of lab values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
- Differential ... Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... metastases, Hungry bone syndrome ... Diagnosis #Algorithm
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Diagnosis #Algorithm ... #Causes #Peds #
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Diagnosis Algorithm ... Hypercalcemia-PTH effect ... • Gitelman's syndrome ... other EGFR ab • Genetics ... #Diagnosis #Algorithm
Causes of Depressed / Lethargic Newborn - Differential Diagnosis Algorithm
Maternal Related:
 • Drugs (Ex. SSRI)
 •
Diagnosis Algorithm ... Congenital Heart Defect ... Respiratory Distress Syndrome ... #Diagnosis #Algorithm ... #Causes #Peds #
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
- Genetic ... Hypomagnesemia #Differential ... #Diagnosis #Low ... #Magnesium #Table ... Classification #Causes #Workup
Hypophosphatemia - Differential Diagnosis Algorithm
Appropriately Low Kidney Phosphate Excretion:
 • Decreased GI Absorption: Chronic Diarrhea, Antacids,
Hypophosphatemia - Differential ... Diagnosis Algorithm ... Alkalosis, Tumor Genesis ... #Diagnosis #Algorithm ... nephrology #phosphorus #workup
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
and workup ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Approach to Thrombocytosis - Elevated Platelet Count - Differential Diagnosis Algorithm

Peripheral Smear concerning for malignancy?
Platelet Count - Differential ... Diagnosis Algorithm ... hematology for workup ... Kawasaki, Nephrotic syndrome ... #Diagnosis #Algorithm