Metabolics

Question 1

Very sick infant with pH 7.49, pCO2 20s

What is the category of metabolic disorder that would account for the baby’s presentation?

What is a test that can be ordered and provide quick confirmation of your suspicion?

Question 2

A 3 week old presents with jaundice, hepatomegaly, and E. Coli bacteremia.

What is the diagnosis?

What is a screening test you would do?

What are two long term complications?

Answer 2

What is the diagnosis?

• Galactosemia

What is a screening test you would do?

• Red blood cell GALT activity (gold standard for diagnosis)
• Increased galactose and RBC galactose-1-P concentration, increased blood and urine galactitol levels

What are two long term complications?

• Cataracts (30%)
• Intellectual disability
• Ovarian failure (81% of females)

Up To Date Galactosemia: Clinical manifestations and diagnosis

Up To Date Galactosemia: Management and outcome

Question 3

A 3 day old male with lethargy, decreased LOC. Serum NH3 found to be >400. List 3 management steps.

Question 4

6 month-old baby, normal at birth, now presenting with macroglossia, hypotonia and cardiomegaly. ECG shows large QRS voltages.

What is the diagnosis (be specific)?