Inborn Errors of Metabolism and Newborn screening

Question 1

Inborn errors of metabolism are typically mutations in

Answer 1

enzymes

Question 2

Typical inheritance of inborn errors of metabolism

Answer 2

typically autosomal recessive

Question 3

What category makes up the largest percentage go IEMs

Answer 3

mitochondrial (23%)

Question 4

Typically lower residual enzyme activity means

Answer 4

more severe/faster course

Question 5

Typically higher residual enzyme activity means

Answer 5

less severe/ slower course

Question 6

Small increases in enzyme activity or reduction in substrate can have

Answer 6

large effects on the clinical phenotype/outcome

Question 7

Good newborn screening targets

Answer 7

sensitive, specific and feasible screen tests exist

can detect disease pre-symptomatically in newborn period

natural history of disease is understood

treatments exist that can improve outcomes

outcomes can be improved when treatment is started pre-symptomatically

Question 8

Defect in synthesis or catabolism specific compounds

Answer 8

condition is not affected by food ingestion
progressive symptoms

Question 9

accumulation of toxic metabolites distal to the block of a specific metabolic pathway

Answer 9

condition is either acute and recurrent or chronic and progressive

such as carbohydrates metabolism disorders and amnioacidopathies

Question 10

defect in energy production or utilization

Answer 10

condition is manifested by muscle. liver, and brain insults

such as carbohydrate, lipid and mitochondrial metabolism disorders

Question 11

Ill infants with an IEM maybe misdiagnosed with

Answer 11

sepsis/ infection
hypoxia/ HIE
pyloric stenosis
formula intolerance