| 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. |
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| PKU | phenylketonuria |
|---|---|
| PAP | 1) Prostatic Acid Phosphatase; 전립성 산성 인산분해효소 2) Primary Atypical Pneumoni... |
| ACML | atypical chronic myeloid leukemia |
| AFP | alpha-fetoprotein; anterior faucial pillar; atypical facial pain |
| ALEP | atypical lymphoepithelioid cell proliferation |
| PKU | Phenylketonuria |
|---|---|
| A | Atypical |
| AMS | Atypical Mole syndrome |
| ASCUS | Atypical Squamous Cells of Undetermined Significance |
| AAH | Atypical adenomatous hyperplasia |
| 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) |
| atypical | Irregular, not conformable to the type, in microbiology, applied specifically to strains of unusual type. Origin: Gr. Typos = type or model (16 Dec 1997) |
| atypical absence seizure | An absence seizure associated with an EEG pattern of irregular or slow spike and wave at less than 2.5 Hz or paroxysmal fast activity on an abnormally slow background EEG. (05 Mar 2000) |
| atypical achromatopsia | Incomplete achromatopsia with normal visual acuity and no nystagmus. Compare: dyschromatopsia. (05 Mar 2000) |
| atypical bacterial forms | Microorganisms that have undergone greater changes than normal in morphology, physiology, or cultural characteristics. (12 Dec 1998) |
| atypical cell | Not usual, abnormal. Cancer is the result of atypical cell division. (09 Oct 1997) |
| atypical facial neuralgia | Periodic pain in any region of the face, teeth, tongue, and occasionally in the occipital or shoulder area, which lasts several minutes to several days but has no trigger point and lacks the paroxysmal character of tic douloureux. Synonym: atypical facial neuralgia. (05 Mar 2000) |
| atypical fibroxanthoma | A solitary, often ulcerated, small cutaneous benign tumour composed of foamy histiocytes, spindle cells, and bizarre giant cells; usually found on the exposed skin of older people; microscopically, atypical fibroxanthoma closely resembles malignant fibrous histiocytoma, but originates in the dermis. (05 Mar 2000) |
| atypical gingivitis | Intense hyperaemic oedema and inflammation of the gingiva resulting from a hypersensitivity reaction. A dense plasma cell infiltrate is seen in the lamina propria. Synonym: atypical gingivitis. (05 Mar 2000) |
| atypical lipoma | <tumour> Lipoma, occurring primarily in older men on the posterior neck, shoulders, and back, which is benign but microscopically atypical, containing giant cells with multiple overlapping nuclei forming a circle. Synonym: pleomorphic lipoma. (05 Mar 2000) |
| atypical measles | Sometimes severe, unusual clinical manifestation of natural measles virus infection in persons with waning vaccination immunity, particularly in those who had received formaldehyde-inactivated vaccine; an accelerated allergic reaction apparently resulting from an anamnestic antibody response, characterised by high fever, absence of Koplik's spots, a shortened prodromal period, atypical rash, and pneumonia. (05 Mar 2000) |
| atypical melanocytic hyperplasia | Proliferation of melanocytes showing nuclear atypicality, especially as scattered single cells high in the epidermis; interpreted by some pathologists as malignant melanoma in situ. (05 Mar 2000) |
| atypical mycobacteria | Species of mycobacteria other than M. Tuberculosis or M. Bovis that can cause disease in immunocompromised humans. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|