need help with your account or subscription? click here to email us (or see the contact page)
join telegramNEW! discord
jump to exam page:
search for anything ⋅ score predictor (โ€œpredict me!โ€)

Retired NBME 27 Answers

nbme27/Block 1/Question#12 (reveal difficulty score)
A 1-year-old girl is brought to the physician ...
alpha-Iduronidase ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags: Hurler_syndrome

 Login (or register) to see more


 +1  upvote downvote
submitted by โˆ—shak360(20)
get full access to all contentpick a username

(E) alpha-Iduronidase (correct)

The only lysosomal storage disease that presents with corneal clouding (as far as I know) is Hurler's syndrome, which is one of two mucopolysaccharidoses, the other being Hunter syndrome. Hunter syndrome can be distinguished from Hurler syndrome in that Hunter syndrome does not present with corneal clouding (Hunters see clearly [no corneal clouding] and aggressively aim for the X [X-linked recessive]). Hurler's syndrome is due to a deficiency in alpha-L-Iduronidase, and Hunter syndrome is due to a deficiency in Iduronate-2-sulfatase. Both diseases lead to an accumulation of heparan and dermatan sulfate.

get full access to all contentpick a username



 +0  upvote downvote
submitted by โˆ—shak360(20)
get full access to all contentpick a username

(C) Glucose 6-phosphatase (incorrect)

G6P deficiency results in Von Gierke disease or Type I glycogen storage disease. These patients have increased glycogen stores in their kidneys and liver, increased blood lactate, increased triglycerides, and increased uric acid which may result in Gout. These patients also often have chronic renal disease. G6P (G6P translocase in type Ib) performs the conversion between Glucose-6-phosphate to glucose in the liver and deficiency causes hepato- and renomegaly and prevents glucose from entering serum.

get full access to all contentpick a username



Must-See Comments from nbme27


search for anything NEW!