Biotin shows promise in BTDAtypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder.
Highly relevant clinical findings
We explored the unusual manifestations of biotinidase deficiency (BTD), showcasing three cases initially diagnosed as neuromyelitis optica spectrum disorder (NMOSD).
These patients exhibited severe symptoms such as quadriplegia and vision loss. Although some responded to immune therapy initially, they relapsed, while one did not improve at all.
Following further testing, it became clear that BTD was the true culprit. Remarkably, two patients experienced significant recovery after starting biotin supplementation, highlighting the potential of biotin in treating this deficiency.
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We observed a fascinating case of a four-year-old girl diagnosed with Thiamine Metabolism Dysfunction Syndrome 5 and acute disseminated encephalomyelitis, who exhibited marked improvement after treatment with biotin and thiamine. Initially presenting with fever and agitation post-vaccination, genetic tests later revealed a pathogenic variant in the TPK1 gene. The girl's clinical status improved significantly, with resolution of autism spectrum disorder symptoms, supporting the role of early intervention. This case strengthens the evidence for biotin and thiamine in treating metabolic deficiencies related to TPK1.
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Dexamethasone delivery variations studiedThe mode of dexamethasone decoration influences avidin-nucleic-acid-nano-assembly organ biodistribution and in vivo drug persistence.
High relevance in drug delivery
We explored how different linkers and lengths in biotin-dexamethasone conjugates affect drug delivery to the liver, particularly in autoimmune hepatitis. Through in vitro and in vivo studies, we noted that certain combinations enhance drug stability and uptake in liver cells.
Our findings suggest that tweaking the construction of these nanoparticles can meaningfully influence how effectively the drug works in the body. This could lead to better steroid formulations tailored for various medical needs.
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We explored two intriguing cases of biotinidase deficiency, a rare genetic disorder that can mimic conditions like Neuromyelitis Optica Spectrum Disorder. Initially, both patients received treatments for immune-mediated disorders, but when their symptoms worsened, further testing revealed biotinidase deficiency.
Remarkably, after starting biotin supplementation, both children showed significant improvement. This highlights the importance of recognizing atypical neurological signs, as early diagnosis and treatment of biotinidase deficiency can lead to effective intervention.
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Biotin shows potential in neuropathiesHigh-dose pharmaceutical-grade biotin in patients with demyelinating neuropathies: a phase 2b open label, uncontrolled, pilot study.
Moderate relevance to treatment efficacy
We set out to examine the effects of high-dose pharmaceutical-grade biotin on patients with different types of demyelinating neuropathies.
In a pilot study involving 15 participants, we aimed to see if this treatment could improve various nerve function measures.
While the main goal of achieving a 10% improvement in specific nerve conduction measurements wasn’t reached, many participants showed better sensory and motor abilities.
Overall, these findings suggest that high-dose biotin might help in some ways, and the treatment was well-tolerated by participants.
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