Biotinidase deficiency: A treatable neurometabolic disorder Article Swipe
Beena Devanapalli
,
Ivon Harliwong
,
Natalie Lim
,
P Ian Andrews
,
Keshini Vijayan
,
Won‐Tae Kim
,
Tiffany Wotton
,
Esther Tantsis
,
Enzo Ranieri
,
Adviye Ayper Tolun
,
Shanti Balasubramaniam
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.bdcasr.2024.100021
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.bdcasr.2024.100021
Biotinidase (E.C. 3.5.1.12) is an enzyme which recycles biotin, a coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. Biotinidase deficiency (OMIM #253260) causes a reduction in free biotin leading to multiple carboxylase deficiency. In its severe form, children may have seizures, delayed development, respiratory issues, cutaneous manifestations, hearing and visual loss. The milder phenotype may manifest symptoms only when stressed, such as during infections. We describe two infants who presented aged two and five months respectively, with generalised seizures, mild gross motor delay, elevated plasma and cerebrospinal fluid lactate levels. Moderate increases in propionylcarnitine and 3-hydroxyisovalerylcarnitine on plasma acylcarnitine profile suggested multiple carboxylase deficiency. Further testing confirmed biotinidase deficiency. Retrospective qualitative analysis of the newborn screening dried blood spot cards in both patients showed reduced biotinidase enzyme activity. Molecular analysis confirmed pathogenic homozygous variants in the BTD gene. They were commenced on oral biotin with no further seizures observed in either patient. Patient 1 also made significant developmental gains and achieved age-appropriate milestones by 12 months. At five years of age, he has receptive and expressive language delays. Early identification and treatment of biotinidase deficiency can prevent lifelong complications and major disabilities, hence should be considered as an important differential of seizures and neurodevelopmental delay. Currently, biotinidase deficiency is not one of the conditions screened for in newborns in Australia, however with the evolving demographics due to robust immigration, the New South Wales Newborn Screening Program has reconsidered its inclusion in our screening program.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.bdcasr.2024.100021
- OA Status
- hybrid
- Cited By
- 4
- References
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4399007017Canonical identifier for this work in OpenAlex
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https://doi.org/10.1016/j.bdcasr.2024.100021Digital Object Identifier
- Title
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Biotinidase deficiency: A treatable neurometabolic disorderWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
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2024-05-25Full publication date if available
- Authors
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Beena Devanapalli, Ivon Harliwong, Natalie Lim, P Ian Andrews, Keshini Vijayan, Won‐Tae Kim, Tiffany Wotton, Esther Tantsis, Enzo Ranieri, Adviye Ayper Tolun, Shanti BalasubramaniamList of authors in order
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https://doi.org/10.1016/j.bdcasr.2024.100021Publisher landing page
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://doi.org/10.1016/j.bdcasr.2024.100021Direct OA link when available
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Biotinidase deficiency, Medicine, Pediatrics, Internal medicine, Newborn screeningTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2025: 3, 2024: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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