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Retired NBME 29 Answers

nbme29/Block 1/Question#22 (reveal difficulty score)
A 6-year-old boy is brought to the physician ...
Tyrosine hydroxylase ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags: biochem

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submitted by โˆ—namesthegame22(13)
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Tyrosine hydroxylase normally converts tyrosine to L-DOPA, the precursor to dopamine, norepinephrine, and epinephrine.

Tyrosine hydroxylase deficiency leads to decreased dopamine and consequent progressive dystonia.

A decrease in dopamine leads to a decrease in dopamine degradation products, such as homovanillic acid.

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namesthegame22  It's also the rate-limiting step in catecholamine synthesis. Thus, Analysis of the CSF = decreased catecholamins means and HVA in patients with tyrosine hydroxylase deficiency. Dystonia comes from a dopamine deficiency. Treatment centers around the replacement of l-dopa. +



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