Inborn Errors of Metabolism

Question 1

Clinical picture of organic acid disease

Answer 1

feeding intolerance
vomiting
lethargy

Question 2

Lab findings for organic acid disease

Answer 2

metabolic acidosis
HYPERammonemia
INCREASED ketones
increased lactic acid

Question 3

Treatment for organic acid disorder

Answer 3

stop protein
give dextrose
supplement carnitine

Question 4

Clinical picture urea cycle defect

Answer 4

feeding intolerance
vomiting
lethargy

Question 5

Lab findings in urea cycle defect

Answer 5

Respiratory alkalosis
hyperammonemiaT

Question 6

Treatment of urea cycle defect

Answer 6

Stop all protein intake
give dextrose

Question 7

Clinical picture of fatty acid oxidation defect

Answer 7

presents after fasting or high metabolic demand

Question 8

Lab findings in fatty acid oxidation defect

Answer 8

HYPOketotic hypoglycemia
mild hyperammonemia

Question 9

Treatment of fatty acid oxidation defect

Answer 9

give dextrose
avoid fasting
stop fat intake - needs only small chain fatty acids

Question 10

What is the disease in which giving breast milk is CONTRAINDICATED?

Answer 10

galactosemia

Question 11

Clinical picture of galactosemia

Answer 11

baby in 1st 10 days of life with conjugated hyperbilirubinemia and decreased feeding

can have liver failure

Question 12

Clinical picture of glycogen storage disorder

Answer 12

hypoglycemia with hepatomegaly
lactic acidosis
increased triglycerides and urate

Question 13

What value of ammonemia is always pathologic?

Answer 13

> 200