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Biotinidase deficiency with hypertonia as unusual feature
Narendra Rathi1, Manisha Rathi
1Rathi Children and Maternity Hospital, Civil Lines, Akola 444 001, M.S., India. drmansh@hotmail.com
Indian Pediatrics
|January 31, 2009
Summary
Biotinidase deficiency in infants can cause neurological and skin issues like spasticity. Prompt treatment with oral biotin led to excellent recovery in all reported cases.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
- Early diagnosis and treatment are crucial to prevent severe neurological sequ*elae.
Observation:
- Three infants presented with early-onset neurological symptoms, including hypertonia (spasticity), and cutaneous manifestations.
- Clinical presentation varied, highlighting the diverse impact of the deficiency.
Findings:
- All patients demonstrated a significant positive response to oral biotin supplementation.
- Genetic analysis in one case identified a specific 7D3I biotinidase deficient mutation, contributing to understanding genotype-phenotype correlations.
Implications:
- This case series underscores the importance of newborn screening for biotinidase deficiency.
- Timely biotin intervention can effectively reverse or prevent neurological and cutaneous damage.
- Further research into specific mutations can refine diagnostic and therapeutic strategies.
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