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대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease, v.15 no.3, 2015년, pp.110 - 117
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All infants should be screened for phenylketonuria (PKU) within the three days of life, in order to allow timely dietary intervention to protect children with PKU from neurologic damage in Korea. A commonly used cut-off level for diagnosis of PKU is
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| 핵심어 | 질문 | 논문에서 추출한 답변 |
|---|---|---|
| 페닐케톤뇨증이 유전성 대사질환 중에 전 세계적으로 가장 잘 알려진 이유는 무엇인가? | 페닐케톤뇨증(PKU)은 전 세계적으로 가장 잘 알려진 중요한 유전성 대사질환이다. 그 이유는 유전성 대사이상 질환들 중에서 상대적으로 높은 발생 빈도뿐만 아니라 이 질환의 진단 및 치료에 대한 역사적인 의미가 크기 때문일 것이다. | |
| 고페닐알라닌혈증이란? | 고페닐알라닌혈증은 타이로신 대사 과정의 장애로 인해 체액과 조직 내에 페닐알라닌이 축적되어 있는 상태를 말한다. 주 원인은 페닐알라닌수산화효소(phenylalanine hydroxylase, PAH)의 결핍과 조효소로 작용하는 tetrahydrobiopterine (BH4)의 결핍이다. | |
| 고페닐알라닌혈증의 주원인은? | 고페닐알라닌혈증은 타이로신 대사 과정의 장애로 인해 체액과 조직 내에 페닐알라닌이 축적되어 있는 상태를 말한다. 주 원인은 페닐알라닌수산화효소(phenylalanine hydroxylase, PAH)의 결핍과 조효소로 작용하는 tetrahydrobiopterine (BH4)의 결핍이다. 페닐케톤뇨증은 혈중 페닐알라닌 농도가 증가된 상태뿐만 아니라 소변에서도 페닐케톤 양성반응을 보이는 경우를 일컫는다. |
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