SNPS and other disorders Flashcards
What is phenylketonuria?
a defet in phenylalanine hydroxlyase
What is the main symptom of phenylketonuria?
mental retardation
What diet should be followed for phenylketonuria?
-low levels of phenylalanine
-high levels of tyrosine
Tyrosinemia type 1is a defect in?
fumarylacetoacetate
What symptoms are associated with tyrosiinemia type 1?
rickets
What is maple syrup urine disease?
a defect in keto acid decarboxylase which then produces increase levels of leucine
What diet should be followed for maple syrup urine disease?
-low in isoleucine
-valine
-leucine
What defect is caused by homocystinuria?
defect in cysthione
What symptoms occur due to homocystinuria?
retardation and heart problems
What diet should be followed for homocystinuria?
-folic acid
-b6
-b12
What is glycogen storage disease?
unable to metabolize glycogen to glucose
What diet should be followed for glycogen storage disease?
-low fat
-high intake of complex carbohydrates
