Genetic disorder for dat

[mkhan27]

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If anyone knows, how in depth would you say we should study genetic disorders for the dat (i.e. PKU is the inability to produce phenylalanine causing pyruvic acid to accumulate, Tay sacchs disease is the inability to breakdown lipids for a normal brain, cystic fibrosis is fluid building up in tracts or other stuff like (i.e. Klinefelter is XXY, Turner-XO, etc).

I understand all the genetic features, definitions, etc, but should we go in deep by studying the genome now.

Thank you in advance.

 

[mardr2b]

No I think That's enough. With Kleinfelter and Turner I would know when this non disjunction would occur like what stage of meiosis.

 

[Jay20155555]

I thought PKU was the inability to produce the enzyme that breaks down phenylalanine... I could be wrong. I was also wondering in Feralis's notes it says the degredation product phenylpyruvic acid accumulates, why does this accumulate? from what process? Is this acid a coreagent to the breakdown of phenylalanine?