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NBME 24 Answers

nbme24/Block 2/Question#22 (30.0 difficulty score)
A 3-month-old boy is brought to the physician ...

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submitted by lsmarshall(393),
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eelZglewr mrdnsyeo - ootamlsua essecriev sroddire of epixmoeosr eosiengisb eud ot dmutate PEX sg.ene tayoonHpi, eieusszr, ape,lhoygmeta alrye dhate nwtiih( 1 ra)ey. xadinβooi-t fo LFVCA epnpsha in soormxespei so the ldchi igelsnmey ahving meso otrs of ltoeainngc comabitle sreoridd iwth etavelde FsVLAC dlsuoh evha eben noheug to get eth swenar houtiwt gnownik ubtao lZe.grleew

jucapami  furthermore, FA 2019 pg 47 +4  
tiredofstudying  Same page for FA 2020^ +4  

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.

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?