Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency
| ISSN: |
1573-2630
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|---|---|
| Keywords: |
Gyrate atrophy ; Retinal pigment epithelium ; Hyperornithinaemia
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798296653912866816 |
|---|---|
| autor | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| autorsonst | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| book_url | http://dx.doi.org/10.1007/BF00133277 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM194439739 |
| issn | 1573-2630 |
| journal_name | International ophthalmology |
| materialart | 1 |
| notes | Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy. |
| package_name | Springer |
| publikationsjahr_anzeige | 1978 |
| publikationsjahr_facette | 1978 |
| publikationsjahr_intervall | 8024:1975-1979 |
| publikationsjahr_sort | 1978 |
| publisher | Springer |
| reference | 1 (1978), S. 49-56 |
| schlagwort | Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia |
| search_space | articles |
| shingle_author_1 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| shingle_author_2 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| shingle_author_3 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| shingle_author_4 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. |
| shingle_catch_all_1 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy. 1573-2630 15732630 Springer |
| shingle_catch_all_2 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy. 1573-2630 15732630 Springer |
| shingle_catch_all_3 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy. 1573-2630 15732630 Springer |
| shingle_catch_all_4 | Deutman, August F. Sengers, R. C. A. Trybels, J. M. F. Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Gyrate atrophy Retinal pigment epithelium Hyperornithinaemia Abstract A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy. 1573-2630 15732630 Springer |
| shingle_title_1 | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| shingle_title_2 | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| shingle_title_3 | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| shingle_title_4 | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:55:31.733Z |
| titel | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| titel_suche | Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM194439739 |