Inborn Errors Metabolism

Question 1

Inborn errors list

Answer 1

Glycogen storage disease
Fructose and galactose
Organic acidemia
FA diseases
OTC Deficiency ( orotic aciduria )
Mitochondrial diseases

Question 2

Glycogen storage disease

Answer 2

May cause hypoglycemia:
Von Gierke
Cori

Or not:
McArdle
Pompe

Clinical Features:
Ketosis
Hepatomegaly
Lactic acidosis in Von gierke
No lactic acidosis in Cori

Question 3

Organic acidemia

Answer 3

Hypoglycemia
Hyperammonimia
Poor feeding
Organic acid in urine or blood

Can be:
Propionic acidemia
Methylmalonic acidemia

Question 4

FA diseases

Answer 4

3 months old - 2 years old
Hypoketotic hypoglycemia ( carnitine deficiency and MCAD deficiency )
Doesn’t have ketosis because ketone body need FA Metabolism to rise)

Hepatomegaly
Hypotonia
Altered consciousness

Question 5

Lyso

Question 6

Primary carnitine deficiency

Answer 6

Children
Myophaty
Cardiomyopathy
Hypoketotic hypoglycemia
Biopsy decrease muscle carnitine

Obs: other fatty acid disorder - acylCoA dehydrogenase deficiency