Genetics: Newborn Screening of Genetic Disorders

Question 0

Disease manifestations depend upon

Answer 0

• What tissues are affected by too much or too little metabolite and how they are affected

Question 1

Individual metabolic disorders are ____, but combined they are ____

Answer 1

Rare

Common

Question 2

Disease occurs because of (3)

Answer 2

• Too much of the metabolite prior to the block
• Too little of the metabolite after the block
• Both

Question 4

Early-onset metabolic disorder cases (2)

Answer 4

• Present when metabolites present in milk reach a critical level
• Small molecules are removed by placenta prior to birth

Question 5

Late-onset metabolic disorder cases present (2)

Answer 5

• In toddlers affected with common viral illnesses

- These cases can be prevented by newborn screening

Question 6

Infants and illness presentation (4)

Answer 6

Infants are limited in ways that illness can present

	- Altered metal state
	- Feeding refusal 
	- Vomiting

Question 7

Metabolic disorders inheritance pattern (3)

Answer 7

• Autosomal recessive
• Most cases have a negative family history
• Consanguinity is present in a minority of cases