Module 13: Overview of Genetic Errors of Metabolism Flashcards
1
Q
Phenylalanine Hydroxylase Deficiency (PKU)
A
- Phenylalanine hydroxylase (PAH) deficiency
- Autosomal recessive
- Causes buildup of phenylalanine (amino acid) due to a defect in the gene that creates the enzyme needed to break down phenylalanine
2
Q
Galactosemia
A
- Disorder of carbohydrate metabolism that affects the body’s ability to convert galactose to glucose
- Treated w/ dietary restrictions
3
Q
Familial Hypercholesterolemia (FH)
A
- Autosomal dominant
- Causes xanthoma in skin
- Causes elevated LDL cholesterol & increased risk of early onset coronary artery disease
4
Q
What body system is affected in both chronic and acute metabolic conditions?
A
Nervous system
5
Q
Why are individuals with a metabolic condition usually normal at birth?
A
The individual’s mother provides normal metabolism in utero
6
Q
What is the primary organ that is impacted by elevated phenylalanine in individuals w/ PKU?
A
Brain
7
Q
What enzyme defect is responsible for most cases of Galactosemia?
A
GALT
8
Q
What is the main component of Xanthomas?
A
Fats
9
Q
What is the primary defect in Familial Hypercholesterolemia?
A
Defective or absent LDL receptors
10
Q
What childhood condition might an infant with an undiagnosed metabolic condition be diagnosed w/ early on?
A
Failure to thrive
