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16 Cards in this Set
- Front
- Back
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what is meant by being non-directive in genetic counseling?
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you can't give solid yes and no answers
you have to provide all the information and let them decide |
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What is GINA? what does it cover?
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Genetic Information Non-Discrimination Act
Prohibits health insurers from using genetic information in determining eligibility or setting premiums Prohibits employers from purchasing a person’s genetic information, or using genetic information in decisions regarding hiring, firing, work assignments, etc. Prohibits health insurers or employers from requesting or requiring a person or family member to undergo a genetic test |
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What are the consequences of treating PKU with dietary therapy
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vitamin D def
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pts with hyperphenylalaninemias should avoid which of the following foods
Meat Diet Coke Bread Lasagna Corn |
Meat-proteins
Diet Coke-aspartaine (phenyl) Bread Lasagna Corn All the above |
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patients with PKU should consume a:
a high protein diet Atkins Zone diet Low protein diet a low carb diet enzyme replacement therapy |
Low protein diet
avoid milk (high protein) |
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problems that can arise with PKU?
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mental retardation, growth retardation, seizures, fair skin, eczema, musty body order
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What is the only drug approved for the tx of PKU?
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Sapropterin
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15 year old PKU can't maintain his diet what do you recommend?
LNAA PEG-PAL Gene therapy Sapropterin Refer to support groups Advise the pt of the consequences of diet incompliance |
LNAA-nutrient supplement, prevents phenyalanine from crossing BBB (WRONG)
Correct answers: Refer to support groups Advise the pt of the consequences of diet incompliance |
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mother w/ pku and normal father have a child who appears normal at birth. immediately after they get DNA testing from 23andMe. test confirms that the child has a mutation in the PH gene. Tx? (also what is the inheritance)
immediately begin dietary restriction of phenylalanine immediately begin dietary tx and sapropterin refer to clinical trial group that is testing the efficacy of LNAA in children with PKU measure the amount of Phe in the pts serum Do nothing Suggest further genetic testing |
this is an AR dz
Answers: measure the amount of Phe in the pts serum Suggest further genetic testing |
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LNAA is an example of:
substrate reduction therapy toxin removal dietary supplementation inhibition of enzyme activity enzyme enhancement therapy |
substrate reduction therapy
toxin removal dietary supplementation competes with phenylalanine at the receptor so that you drop the levels of phenylalanine from crossing the BBB |
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pts with hyperphenylalaninemias most likely have a genetic dfect in which of the following enzyme?
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Phenylalanine hydroxylase
PH |
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the cause of suboptimal outcomes in pts with PKU tx with diet alone is caused by
pt non compliance secondary deficiencies associated with the diet lack of pt followup for other 2ndary problems lack of medical knowledge all the above |
the cause of suboptimal outcomes in pts with PKU tx with diet alone is caused by
pt non compliance secondary deficiencies associated with the diet (vitamin D def leading to bone problems) lack of pt followup for other 2ndary problems (tyrosine becomes essential) lack of medical knowledge all the above |
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what is the greatest obstacle to using enzyme replacement therapy to treat PKU
non-compliance inducing enzyme activity suboptimal results nutrient deficiencies crossing the BBB |
crossing the BBB
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a pt with PKU often presents with hypopigmentation...Why?
genetic mutation in the PH gene abnormal chemical environment interferes with normal pigmentation hypopigmentation is caused by a deficiency in vitamin D the mecha of hypopigmentation in pts with PKU is unknown |
abnormal chemical environment interferes with normal pigmentation
NO TYROSINE.. can't synthesize melanin (and dopamine) |
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pts with hyperphenylalaninemias are most commoly diagnosed by
positive Guthrie test mass spectrometry analysis genetic analysis aminocentesis |
\positive Guthrie test
bacterial culture...they love phenylalanine, so you see how much grows on it |
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a woman with PKU gets pregnant
How should you counsel her? explain that b/c PKU is AR the child won't be affected be non-directive explain that she must adhere to the restricted diet because high phenylalanine levels from her blood can damage her fetus's neurologic development advise her to immediately put the child on a restrictive diet as soon as it is born tell her that she should abort the pregnancy FINAL JEOPARDY QUESTOIN |
explain that she must adhere to the restricted diet because high phenylalanine levels from her blood can damage her fetus's neurologic development
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