Save
Busy. Please wait.
Log in with Clever
or

show password
Forgot Password?

Don't have an account?  Sign up 
Sign up using Clever
or

Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
Your email address is only used to allow you to reset your password. See our Privacy Policy and Terms of Service.


Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
focusNode
Didn't know it?
click below
 
Knew it?
click below
Don't know
Remaining cards (0)
Know
0:00
share
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

GeneticDisorders-II

lecture 26 wilson

QuestionAnswer
biochemical pathway of PKU Phe converted to Tyr via enzyme phenylalanine hydroxylase (PAH), which is defective or absent in PKU pts. results in increased Phe levels and very low Tyr levels (melanin precursor)
inheritance pattern of PKU autosomal recessive, 1/12,000 births affected
clinical features of PKU pt mousy odor, severe MR (if not treated after 6 mo), fair complexion (no Tyr, no melanin), eczema, ataxia (cerebellum), nl facial features, no HSM
maternal PKU teratogenic effects of Phe when mom doesn't have good dietary control. results in 75%-90% of children having MR, microcephaly and congenital heart dz in 15%
galactosemia 1/60,000 AR dz with founder effect in Irish populations, classic form = most commonly due to defect in galactose-1-P uridyl transferase (GALT)
clinical features of galactosemia v/d, neonateal jaundice, hepatomegaly, cataracts from deposition in eyes, MR, infections ("pts are huge Petri dishes full of sugar")
diagnosing/tx of galactosemia direct enzyme assay, presence of non-glucose reducing sugar in urine // remove galactose from diet and avoid cataracts and liver damage; gonadal failure, ataxia and speech disorders are inevitable
anatomic changes of galactosemia that's untreated organomegaly, fatty changes and fibrosis of liver (due to inflammatory response), cataracts
Tay Sachs dz lysosomal-storage AR dz occurring in 1/30 Ashkenazi Jews, mutation in alpha subunit of hexosaminidase A due to frameshift mutation; inability to degrade GM2 gangliosides resulting in lipidosis
clinical features of Tay Sachs dz membranous cytoplasmic bodies by EM, cherry red spot in retina, blindness, motor and mental deterioration, death usually by 2 y/o
Neimann Pick dz types A & B sphingomyelinase deficiency resulting in sphingomyelin accumulation; type A - complete absence of enzyme = visceral & neural accumulation, death by 3 y/o // type B - low enzyme amt, survive to be adults with fatty liver changes
Neimann Pick dz type C chol accumulation due to NPC-1 gene mutation, terminal axons and dendrites degenerate; phenotype: hydrops fetalis, neonatal hepatitis, ataxia, supranuclear palsy (disconjugate gaze), organomegaly, dysarthria
Gaucher dz most common lysosomal-storage dz, glucocerebrosidase mutation causing accumulation in phagocytes; type I - some activity, into adulthood, Jewish predilection // type II - not Jews, die early = no activity // type III - intermediate, juvenile involvement
histologic changes of Gaucher dz macrophages are filled with glucocerebrosides, have fibrillary cytoplasm that looks like "crumpled tissue paper;" can affect CNS, spleen and skeletal systems
mucopolysaccharidoses (MPS) Hurler and Hunter syndromes, no lysosomal enzymes to degrade GAGs so they accumulate within cells; phenotype: cloudy corneas, MR, HSM, CV involvement, coarse facial features, skeletal deformities, joint stiffness
Hurler syndrome (MPS I) AR dz, no alpha-L-iduronidase = can't break down dermatan and heparan sulfate, HSM by 6-24 mo, usually die from valve regurgitation then cardiac arrest, cubitus valgus
Hunter syndrome (MPS II) ONLY lysosomal storage dz that's X-linked, dermatan and heparan sulfate not degraded, no CNS involvement or corneal clouding [Hunters are usually males, have to be able to see well]
glycogen storage diseases von Gierke, McArdle, Pompe
vonGierke dz type I is hepatic form = HM with cirrhosis, hypoglycemia, weakness b/c glycogen can't be cleaved to release free glucose
McArdle dz type V is myopathic form, absent muscle glycogen phosphorylase causes hypotonia, muscle cramps, weakness due to low energy output
Pompe dz type II is lysosomal storage dz AND glycogen storage dz resulting in profound cardiomyopathies and organomegaly. cardiomyocyte lysosome are packed full
alkaptonuria inborn error of metabolism, lack of homogenistic oxidase causing acid to accumulate; phenotype: dark urine, ochronosis, degenerative arthropathy
neurofibromatosis benign defect in regulation of cell growth around neurons and in the neural sheath with typical whorled configuration histologically, genes are NF1 and NF2, AD with 100% penetrance and variable expressivity
neurofibromatosis type I 1/3000, half are new mutations, mild-severe sx from cafe-au-lait spots to malignant neurosarcomas, Lisch nodules - pigmented hamartomas of iris, axillary speckling
neurofibromatosis type II acoustic neurofibromatosis, 1 in 40-50,000; unique bilat neoplasms in auditory canal, meningiomas, ependymal gliomas, non-neoplastic transformations into Schwannosis, glial hamartomas, etc. NF2 or merlin is tumor suppressor gene that's mutated
Created by: sirprakes
Popular Genetics sets

 

 



Voices

Use these flashcards to help memorize information. Look at the large card and try to recall what is on the other side. Then click the card to flip it. If you knew the answer, click the green Know box. Otherwise, click the red Don't know box.

When you've placed seven or more cards in the Don't know box, click "retry" to try those cards again.

If you've accidentally put the card in the wrong box, just click on the card to take it out of the box.

You can also use your keyboard to move the cards as follows:

If you are logged in to your account, this website will remember which cards you know and don't know so that they are in the same box the next time you log in.

When you need a break, try one of the other activities listed below the flashcards like Matching, Snowman, or Hungry Bug. Although it may feel like you're playing a game, your brain is still making more connections with the information to help you out.

To see how well you know the information, try the Quiz or Test activity.

Pass complete!
"Know" box contains:
Time elapsed:
Retries:
restart all cards