
Don’t be overwhelmed knowing/memorizing each inborn error of metabolism. The basic approach is actually quite easy!!!



Inborn Errors of Metabolism (IEM)



* Almost always result in one of the following three clinical abnormalities* Buildup of toxins* Ammonia* To test for this, obtain an ammonia level* Buildup of acids* Methylmalonic acidemia* To test for this, obtain electrolyte panel and look for decrease CO2* Shortage of glucose* Glycogen storage disorders* To test for this, obtain a blood glucose level



Congenital Adrenal Hyperplasia (CAH)



* Decreased 21-hydroxylase enzyme* Physiologic abnormalities* Decreased aldosterone* Low sodium (hyponatremia)* High potassium (hyperkalemia)* Decreased cortisol* Low glucose level* Hyperpigmentation* INCREASED sex hormone (androgens)* Fused labia* Partial male genitalia



Additional Reading



* Congenital Adrenal Hyperplasia (Wikipedia)

Peds I- Inborn Errors of Metabolism and Endocrinology

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* Common during the first year of life as well as during puberty



* Presents with nausea/vomiting, abdominal pain, and/or testicular pain



* ALWAYS examine a child for signs of torsion who presents with abdominal pain (especially lower abdominal pain)



* Look for tenderness, firmness, high riding testicle or testicle with unequal lie, swelling, and the absence of a cremasteric reflex   



* Consult Urology IMMEDIATELY if you have high suspicion, otherwise proceed to ultrasound



* Ultrasound is only 85% sensitive, so clinical gestalt can trump even a negative US



* Attempt manual detorsion if there will be a significant delay to surgery


Testicular Torsion (Deep Dive MW R19)


You are working at Clerkship General when the next patient is put into your rack. It is an 8 year-old male with vomiting



Initial Vitals:



HR: 119



BP: 104/63



Temp: 98.0F



RR: 20



O2: 99% (Room Air)



Critical Actions:




* Finger Stick Blood Glucose



* Treat Patient’s Pain



* Diagnose Testicular Torsion



* Immediate Urology Consult



* Perform Manual Detorsion




References:



Mellick LB, Sinex JE, Gibson RW, Mears K. A Systematic Review of Testicle Survival Time After a Torsion Event. Pediatr Emerg Care. 2019 Dec;35(12):821-825. doi: 10.1097/PEC.0000000000001287. PMID: 28953100.

Round 19 (MW) Tummy Ache in Child with Diabetes


Phase One: CNS




* Ataxia, Slurred Speech, Confusion, N/V, Seizures




Phase Two: Cardiopulmonary 




* CHF, Cardiogenic Shock/Hypotension, Pulmonary Edema, ARDS




Phase Three: Renal




* Flank pain, Hematuria, Oliguria, Renal Failure




Diagnosis:




* HIGH INDEX OF SUSPICION



* Ethylene Glycol Serum Level



* Elevated Osmolar Gap



* Serial Anion Gap Measurements




Treatment:




* Fomepizole or Ethanol to prevent breakdown to toxic glycolic acid/oxalic acid



* Hemodialysis



* Consider Bicarb drip, pyridoxine, and thiamine








Further Reading:



 EMCrit Toxic Alcohols





Ethylene Glycol (Deep Dive MW R18)


You are working at Clerkship General when you hear an EMS call on the radio. Clerkship General, we are bringing you Arthur. He is intoxicated… Again



Initial Vitals:



HR: 116



BP: 150/70



Temp: 98.8



RR: 26



O2: 85% (Room Air)



Critical Actions:




* Recognize Hypoxemia



* Diagnose Toxic Alcohol Ingestion



* Consult Nephrology Emergent Dialysis



* Administer Fomepizole



* Workup Anion Gap Metabolic Acidosis


Round 18 (MW) Drunk Man Wants Pizza


Hypertensive Emergencies of Pregnancy



PreEclampsia, Eclampsia, HELLP syndrome



Diagnosis: BP >140/90 plus end organ dysfunction 




* Acute Kidney Injury



* Proteinuria



* Thrombocytopenia



* Transaminitis



* Hemolysis



* Pulmonary Edema



* Cerebral Edema / Hemorrhage



* Headache refractory to tylenol



* Visual Changes



* RUQ Pain not attributable to another diagnosis




Treatment




* Loading Dose: IV Magnesium 4-6g over 20-30 min OR 5g IM in each buttock



* Maintenance Dose: 1g/hr IV



* Antihypertensives (goal 20% reduction): Labetalol, Nicardipine, Hydralazine



* Delivery of fetus and placenta


Peds I- Inborn Errors of Metabolism and Endocrinology

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