발생학 Malformations and Disruptions

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본문내용
Solution
Mendelian disorder (상동염색체 열성질환)
Phenylketonuria
(PKU)
발병이유
증상
Autosomal recessive
disorder
deficiency in the enzyme
phenylalanine hydroxlase
(PAH), on chromosome
12.
PAH - phenylalanine
tyrosine으로 바꾸어주는
enzyme.
PAH enzyme이 없을 경우, phenylalanine이 tyrosine으로 바뀌지 못하고 축적되어 phenylpyruvate 로 바뀌게 되어 오줌에서 검출
If left untreated,
-brain development abnormal, leading to mental retardation, seizures.
PKU is one of the few genetic diseases that can be controlled by diet.
- A diet low in phenylalanine and high in tyrosine can be a very effective treatment.
phenylpyruvate (also known as phenylketone). There is no cure. Damage done is ieversible so early detection is crucial.