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Brain Slice Biotinylation: An Ex Vivo Approach to Measure Region-specific Plasma Membrane Protein Trafficking in Adult Neurons
Published on: April 3, 2014
Biotinidase deficiency: a treatable leukoencephalopathy
S Grünewald1, M P Champion, J V Leonard
1Children's Hospital, University Hospital Essen, Essen, Germany. stephanie.gruenewald@uni-essen.de
Neuropediatrics
|August 26, 2004
Summary
Biotinidase deficiency can cause severe neurological issues, including leukoencephalopathy, in infants. Early diagnosis and biotin treatment are crucial for improving myelination and preventing long-term neurological sequelae.
Area of Science:
- Neurology
- Biochemistry
- Medical Genetics
Background:
- Biotinidase deficiency is an inherited metabolic disorder.
- It can lead to severe neurological impairment if not diagnosed and treated early.
- UK neonatal screening for this disorder is not standard.
Purpose of the Study:
- To review clinical and neuroradiological findings in patients with biotinidase deficiency.
- To highlight the importance of early diagnosis and treatment.
- To emphasize the role of biotinidase deficiency in unexplained neurological problems.
Main Methods:
- Retrospective review of clinical history.
- Analysis of neuroradiological findings in 5 patients.
- Assessment of treatment response with biotin.
Main Results:
- Patients presented between 4 weeks and 5 months of age.
- Cerebral imaging showed leukoencephalopathy, ventricular widening, and CSF space enlargement.
- White matter abnormalities included delayed myelination and subcortical changes.
- Biotin treatment improved myelination in some cases, but progressive atrophy occurred in others.
- Most patients had lasting neurological sequelae.
Conclusions:
- Biotinidase deficiency should be considered in infants with unexplained neurological symptoms.
- Neonatal screening is essential for early detection and better outcomes.
- Prompt biotin treatment can mitigate some neurological damage.
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