We explored the effects of biotin therapy on a neonate suffering from a rare metabolic disorder known as holocarboxylase synthetase deficiency. After initiating a biotin mega-dose regimen, we observed impressive results, with the baby showing notable clinical improvement just one day later.
Within six days, mechanical ventilation was no longer necessary, and the child maintained stable health through follow-ups. This case underscores the importance of early genetic testing and how effective biotin can be in treating specific metabolic issues.
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We reviewed the clinical and biochemical characteristics of 28 Chinese patients with holocarboxylase synthetase (HLCS) deficiency. Through this retrospective analysis, we observed that most patients exhibited symptoms like rash, seizures, and vomiting. However, after timely biotin supplementation, almost all showed remarkable improvement in their symptoms and overall health.
This suggests that biotin therapy plays a vital role in managing HLCS deficiency, leading to low mortality rates and encouraging long-term outcomes. Early diagnosis through newborn screening is highlighted as essential for effective treatment.
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Biotin effectively treats skin rashThe first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Significant clinical relevance noted
We explored a fascinating case involving a 6-year-old Vietnamese boy diagnosed with holocarboxylase synthetase deficiency, which is linked to biotin metabolism issues. The boy had a significant skin rash and metabolic acidosis, raising suspicion of multiple carboxylase deficiency. After confirming the diagnosis through urine and genetic tests, he began treatment with biotin.
Remarkably, he experienced a dramatic improvement in his condition within just days of starting the treatment. This strongly suggests that biotin can effectively address symptoms related to this deficiency, including skin rashes.
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We explored a case involving a 2-month-old boy who presented with severe symptoms, including seizures and rash, and was quickly suspected of having biotinidase deficiency. After starting him on biotin supplements, we observed remarkable improvement within just 48 hours. His skin conditions, including perioral and perianal rashes, as well as overall health, significantly improved after regular biotin intake. At 10 months, the child is thriving and seizure-free, showcasing how effective timely biotin treatment can be in alleviating symptoms and resolving rash in such cases.
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We examined a patient diagnosed with holocarboxylase synthetase (HCS) deficiency, who presented with a notable rash and other severe symptoms. This condition disrupts biotin's incorporation into enzymes, leading to serious health challenges.
After starting biotin treatment, we observed remarkable improvement in the patient’s condition, including normal growth and development over three years. This case highlights the importance of prompt diagnosis and treatment to avoid serious complications associated with biotin deficiency.
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