Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases
There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for th...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1994-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3638 |
| _version_ | 1826543632645095424 |
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| author | T Coşkun A Tokatli I Ozalp |
| author_facet | T Coşkun A Tokatli I Ozalp |
| author_sort | T Coşkun |
| collection | DOAJ |
| description |
There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for this synthesis. Biotinidase facilitates the release and recycling of free biotin. Deficiency of either HCS or biotinidase is characterized by certain neurological, cutaneous and biochemical abnormalities. In this paper, six patients with biotinidase and two patients with HCS deficiency are described. Among the most common neurological findings were hypotonia (6/8), seizures (2/6) and optic atrophy (2/8). Dermatitis and conjunctivitis were present in three and four patients, respectively. All patients had low blood pH bicarbonate levels. Serum lactate was increased in all and pyruvate in six cases. Two patients with biotinidase deficiency presented earlier than the mean age of onset previously reported in the literature. Detection of eight cases during the past few years at a single metabolic unit indicates that biotinidase deficiency is not rare in Turkey, where the frequency of some other metabolic disorders has also been reported to be high. We suggest that biotin-dependent disorders should be considered in all infants with neurological symptoms, particularly those with jerks, even if other signs such as alopecia, seborrheic dermatitis and acidosis are not evident, regardless of the age of presentation.
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| first_indexed | 2025-03-14T04:49:10Z |
| format | Article |
| id | doaj.art-bf37b310bd9e41609f4011a037653836 |
| institution | Directory Open Access Journal |
| issn | 0041-4301 2791-6421 |
| language | English |
| last_indexed | 2025-03-14T04:49:10Z |
| publishDate | 1994-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj.art-bf37b310bd9e41609f4011a0376538362025-03-07T19:45:15ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211994-10-01364Inborn errors of biotin metabolism. Clinical and laboratory features of eight casesT Coşkun0A TokatliI OzalpDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for this synthesis. Biotinidase facilitates the release and recycling of free biotin. Deficiency of either HCS or biotinidase is characterized by certain neurological, cutaneous and biochemical abnormalities. In this paper, six patients with biotinidase and two patients with HCS deficiency are described. Among the most common neurological findings were hypotonia (6/8), seizures (2/6) and optic atrophy (2/8). Dermatitis and conjunctivitis were present in three and four patients, respectively. All patients had low blood pH bicarbonate levels. Serum lactate was increased in all and pyruvate in six cases. Two patients with biotinidase deficiency presented earlier than the mean age of onset previously reported in the literature. Detection of eight cases during the past few years at a single metabolic unit indicates that biotinidase deficiency is not rare in Turkey, where the frequency of some other metabolic disorders has also been reported to be high. We suggest that biotin-dependent disorders should be considered in all infants with neurological symptoms, particularly those with jerks, even if other signs such as alopecia, seborrheic dermatitis and acidosis are not evident, regardless of the age of presentation. https://turkjpediatr.org/article/view/3638 |
| spellingShingle | T Coşkun A Tokatli I Ozalp Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases The Turkish Journal of Pediatrics |
| title | Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases |
| title_full | Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases |
| title_fullStr | Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases |
| title_full_unstemmed | Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases |
| title_short | Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases |
| title_sort | inborn errors of biotin metabolism clinical and laboratory features of eight cases |
| url | https://turkjpediatr.org/article/view/3638 |
| work_keys_str_mv | AT tcoskun inbornerrorsofbiotinmetabolismclinicalandlaboratoryfeaturesofeightcases AT atokatli inbornerrorsofbiotinmetabolismclinicalandlaboratoryfeaturesofeightcases AT iozalp inbornerrorsofbiotinmetabolismclinicalandlaboratoryfeaturesofeightcases |