소개글
발생학 Malformations and Disruptions에 대한 자료입니다.
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.