[sam01]

A baby that was apparently normal at birth begins to show a delay in motor development by 3 months of age. At one year of age, the child begins to develop spasticity and writhing movements. At age three, compulsive biting of fingers and lips and head-banging appear. At puberty, the child develops arthritis, and death from renal failure occurs at age 25. This patient's condition is due to an enzyme deficiency in which of the following biochemical pathways?

A. Ganglioside metabolism
B. Monosaccharide metabolism
C. Purine metabolism
D. Pyrimidine metabolism
E. Tyrosine metabolism

 

[HouseWannabe]

Lesch–Nyhan syndrome (LNS) so C, defect in the HGPRT1 gene

 

[aungawa]

C. Purine metabolism

The scenario shows self mutilation behavior so its ans is C.

 

[Seetal]

yeah self mutilation and developmental delay were my clues.
so C.

this Lesh Nyhan disease is quite famous with the boards ryte? this is the 3rd time ive come across it. kaplan loves this disease so does FA.

 

[sam01]

u re really good guys. Don't forget that treatment with allopurinol inhibits xanthine oxidase and reduces gouty arthritis, urate stone formation, and urate nephropathy in Lesh Nyhan disease. It does not, however, modify the neurologic/psychiatric presentation.

 

[sahithya]

Motor development is the various movements that your kids perform. These various movements involve components of your kid's muscles. Here is an useful article that describes about few interesting facts about your child's motor development:
http://www.momjunction.com/articles/facts-about-your-childs-motor-development_00354365/

 

[tazreeakter240]

Option,(C)