Enzymatic Defects Flashcards
1
Q
What is the Symptoms of MCAD Deficiency ?
A
1- Fat accumulation in liver → liver disease.
2- Severe fasting hypoketotic hypoglycemia
3- Metabolic acidosis & mild lactic acidosis.
2
Q
Why Infants are particularly affected by MCAD deficiency ?
A
because they depend on MILK
3
Q
MCAD deficiency is ?
A
sudden infant death syndrome (SIDS).
4
Q
Genetic Deficiency of CPT-I It affects the ?
A
liver
5
Q
Genetic Deficiency of CPT-II Occurs primarily in ?
A
cardiac & skeletal muscles
6
Q
Pyruvate kinase deficiency leads to ?
A
anemia
7
Q
About 95% of genetic deficiencies in the glycolytic enzymes is ?
A
pyruvate kinase enzyme
