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nbme24/Block 2/Question#22 (30.0 difficulty score)
A 3-month-old boy is brought to the physician ...
Peroxisomes🔍
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 +17 
submitted by lsmarshall(393),
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jucapami  furthermore, FA 2019 pg 47 +4  
tiredofstudying  Same page for FA 2020^ +4  



 +1 
submitted by abhishek021196(50),

Peroxisome = Membrane-enclosed organelle involved in β-oxidation of very-long-chain fatty acids (VLCFA) (strictly peroxisomal process).

Zellweger syndrome

Autosomal recessive disorder of peroxisome biogenesis due to mutated PEX genes.

Hypotonia, seizures, hepatomegaly, early death.




 +0 
submitted by faus305(6),

So I guess now I know that this is Zellweger syndrome which is a disorder of biogenesis of peroxisomes. But would there have been a way to know this without knowing about this syndrome?

I guess if you knew that peroxisomes are involved in beta-oxidation of VLCFAs then you would've known why they are building up in the liver.

Can anyone explain why the hypotonia, jaundice, and facial problems occur?