Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature
| ISSN: |
1573-2665
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798296657451810817 |
|---|---|
| autor | Michalski, A. J. Berry, G. T. Segal, S. |
| autorsonst | Michalski, A. J. Berry, G. T. Segal, S. |
| book_url | http://dx.doi.org/10.1007/BF01799223 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM193450569 |
| issn | 1573-2665 |
| journal_name | Journal of inherited metabolic disease |
| materialart | 1 |
| notes | Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided. |
| package_name | Springer |
| publikationsjahr_anzeige | 1989 |
| publikationsjahr_facette | 1989 |
| publikationsjahr_intervall | 8014:1985-1989 |
| publikationsjahr_sort | 1989 |
| publisher | Springer |
| reference | 12 (1989), S. 312-316 |
| search_space | articles |
| shingle_author_1 | Michalski, A. J. Berry, G. T. Segal, S. |
| shingle_author_2 | Michalski, A. J. Berry, G. T. Segal, S. |
| shingle_author_3 | Michalski, A. J. Berry, G. T. Segal, S. |
| shingle_author_4 | Michalski, A. J. Berry, G. T. Segal, S. |
| shingle_catch_all_1 | Michalski, A. J. Berry, G. T. Segal, S. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided. 1573-2665 15732665 Springer |
| shingle_catch_all_2 | Michalski, A. J. Berry, G. T. Segal, S. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided. 1573-2665 15732665 Springer |
| shingle_catch_all_3 | Michalski, A. J. Berry, G. T. Segal, S. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided. 1573-2665 15732665 Springer |
| shingle_catch_all_4 | Michalski, A. J. Berry, G. T. Segal, S. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature Summary We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided. 1573-2665 15732665 Springer |
| shingle_title_1 | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| shingle_title_2 | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| shingle_title_3 | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| shingle_title_4 | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:55:35.097Z |
| titel | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| titel_suche | Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM193450569 |