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shisha
06-04-2007, 10:25 AM
Q 1.

A patient with anemia shows signs of peripheral neuropathy. His urine malonic acid levels are raised. This has occured due to deficiency of :

1.]Folic acid
2.]propionyl coA carboxylase
3.]Vit B12
4.]Iron

Q2.

A boy comes with muscle weakness upon exercise specially when he is fasting. Also there is rhaddomyolysis and myoglobinuria. It can be due to deficiency of:

1.]Thiokinase
2.]CAT( carnitine acyl transferase)
3.]Fatty acyl CoA synthetase
4.]Fatty acyl CoA dehydrogenase

Q3.

A patient had vomiting ,fasting hypoglycemia and low ketones. He had history of fever for last few days. He went to coma. What other laboratory finding is accompanied with this situation which strongly points towards the diagnosis

1.]Hyponatremia
2.]Dicarboxylic acidemia
3.]Hyperlipidemia
4.]Hypocalcemia
shisha
06-05-2007, 12:36 AM
ans1

vit B12 deficiency[clues were...anemia+peripheral neuropathy+malonic acid in urine]

ans 2

CAT deficiency[clues: muscle weakness+rhabdomyolysis+myoglobinuria]

ans 3

dicarboxylic acidemia[clues:fasting hypoglycemia+low ketones]
IMG SURVIVOR
06-06-2007, 09:59 PM
They can also ask about a child that has he tendecy of having alot of fractures and his sclera is blue
WHat is the way of heritance?
or
what is the Dx?

Or they can ask about a child that has red cherry in the eye what is the DX or what enzyme is deficient?
Yes I know there are two than could have that.

In the real exam you can see some easy questions, that you will not beleive they are actually asking you that.
stateofequilibrium
06-08-2007, 04:05 PM
Or they can ask about a child that has red cherry in the eye what is the DX or what enzyme is deficient?
Yes I know there are two than could have that.

In the real exam you can see some easy questions, that you will not beleive they are actually asking you that.

Yeah, those are the hardest types. You can't believe those questions are what they seem so you spend an inordinate amount of time looking for "tricks" hahahaha
ray farrell
06-08-2007, 05:10 PM
Where did you get the Qs from! Just curious.
IMG SURVIVOR
06-08-2007, 08:43 PM
Where did you get the Qs from! Just curious.

My questions I just made them up.

Yes I know Im the best :congrats:.

After you have prepare for the USMLE STEP1, you can make questions from top of your head, besides Im the mod:rolleyes:, Im expose to USMLE step1 material all the time, so Im not a genius, anybody with half of a brain can do it,after good preparation and exposure to the material;)
IMG SURVIVOR
06-08-2007, 08:45 PM
Yeah, those are the hardest types. You can't believe those questions are what they seem so you spend an inordinate amount of time looking for "tricks" hahahaha

And people waste time looking for the trick, because you dont beleive that USMLE will ask something so easy, and they mark the wrong answer
Hatim
06-08-2007, 09:05 PM
that easy???? thats like not even USMLEWORLD LEVEL how many of those are there!?!??!
IMG SURVIVOR
06-11-2007, 09:54 AM
They can also ask about a child that has he tendecy of having alot of fractures and his sclera is blue
WHat is the way of heritance?
or
what is the Dx?

1- AD= Autosomal Dominant
2- Osteogesis Imperfecta or brittle bone dissease.

Who can answer the second question?
shisha
06-11-2007, 10:10 AM
It is tay sachs disease with cherry red spots in macula which can lead to blindness.it is due to deficiency of hexosaminidase A.
http://www.tedmontgomery.com/the_eye/eyephotos/pics/TaySachsDisease.jpg