| 영문 | phenylketonuria(=PKU) | 한글 | 페닐케톤뇨증 |
|---|---|---|---|
| 설명 | 선천병으로 체내에 페닐케톤이 축적되어 오줌으로 나오는 병이다. 폐닐케톤이 축적되는 이유는 인체내에 페닐알라닌(phenylalanine)이라는 아미노산을 다른 아미노산인 티로신으로 바꾸어 주는 한 효소(phenylalanine hydroxylase)가 선천적으로 결핍되어 태어나기 때문이다. 이 효소의 결핍이 있으면, 계속적인 페닐알라닌의 축적이 일어나고, 결국은 페닐케톤의 축적으로 발전한다. 신체내의 높은 페닐케톤농도는 태아의 뇌발달을 억제하여 결국은 정신지체를 유발한다. 따라서 이 질병은 빠른 진단으로, 페닐알라닌이 적은 식사(저단백질 식사)를 뇌의 발달이 완전히 멈추는 성인까지 시행하면, 자연히 치료된다. 신생아에서 이 질병의 존재를 알기 위해 오줌이나 혈액내에서, 페닐케톤의 유무를 알아보기도 하며, 구뜨리 진단법(Guthrie's test)을 시행한다. |
||
| PKU | phenylketonuria |
|---|---|
| CIPF | classic interstitial pneumonitis-fibrosis; clinical illness promoting factor |
| CKS | classic form of Kaposi sarcoma |
| CT | calcitonin; calf testis; cardiac tamponade; cardiothoracic [ratio]; carotid tracing; carpal tunnel; ... |
| PKU | Phenylketonuria |
|---|
| phenylketonuria | <disease> Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way. Incidence: highest in Caucasians. Acronym: PKU Origin: Gr. Ouron = urine (15 Oct 1997) |
|---|---|
| phenylketonuria, maternal | Phenylketonuria in a pregnant woman. The maternal disease puts the foetus at great risk of mental retardation and other congenital diseases. (12 Dec 1998) |
| nonclassical phenylketonuria | DHPR-deficient form; an inherited disorder in which there is an absence or deficiency of dihydropteridine reductase (DHPR); this results in impaired regeneration of tetrahydrobiopterin, causing an elevation in phenylalanine levels, GTP-CH form; an inherited disorder in which there is a deficiency of guanosine triphosphate cyclohydrolase, an enzyme used in the biosynthesis of tetrahydrobiopterin, 6-PTS form; an inherited disorder in which there is a deficiency of 6-pyruvoyl tetrahydropterin synthase, an enzyme that participates in the biosynthesis of tetrahydrobiopterin. Synonym: nonclassical phenylketonuria. (05 Mar 2000) |
| migraine, classic | Migraine with aura. Accounts for no more than most 20% of migraines. See migraine. (12 Dec 1998) |
| classic | Of first class of rank, standard. (18 Nov 1997) |
| classic cervical rib syndrome | <syndrome> Very chronic axon loss brachial plexopathy, caused by compromise of the lower trunk fibres by a congenital band extending from a rudimentary cervical rib to the first thoracic rib; rare disorder, found mostly in young to middle-aged women, that presents with unilateral hand wasting and weakness, particularly involving the lateral thenar eminence; sometimes accompanied by intermittent discomfort along the medial forearm and hand. Synonym: cervical rib and band syndrome, classic cervical rib syndrome. (05 Mar 2000) |
| classic migraine | A form of hemicrania migraine preceded by a scintillating scotoma (teichopsia). (05 Mar 2000) |
| typhus, classic | See Typhus, epidemic. (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|