Inborn Errors of Metabolism

Question 1

What is the most common carbohydrate defect?

symptoms include: failure to thrive, hepatic insufficiency, cataracts, developmental delay, poor growth and development

What enzyme is mutated in this disease?

How do we screen for it?

Answer 1

Galactosemia

Galactose-1-phosphate uridyl transferase

OR

galactokinase gene

cannot convert galactose to glucose-- uses alternative pathway galctitol and galactonate

check blood for enzyme activity

Question 2

What disease is appears after adding fruit to the diet?

Symptoms: fruit makes children noxious

What enzyme is defective?

Answer 2

Hereditary fructose intolerance

fructose 1,6-bisphosphate aldolase

Question 3

What disease is caused characterized by the following symptoms?

hypoglycemia, hepatomegaly, no sleeping through the night

What defectve enzyme is responsible?

Answer 3

Von Gierke Disease

glucose-6-phosphate

Question 4

What is the most common cause of hyperphenylalenemia?

What body processes are disrupted by hyperphenylanenmia?

How do we screen for it?

How can it be managed?

Answer 4

Phenylketonuria

defect in phenylalanine hydroxylase, which converts phyenylalanine to tyrosine

disrupts myelination, protein synthesis, and developmental delays

All newborns are tested

low levels of phenylalanine while getting enough protein & tyrosine

Question 5

What disease is characteized by brown, maple syrup smelling urine?