TLDR Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
The document from August 1, 1983, reviews a study on biotinidase deficiency in six patients, highlighting the condition's phenotypic variability, which includes symptoms like metabolic ketoacidosis, organic aciduria, seizures, ataxia, skin rash, and alopecia. It suggests that biotinidase deficiency should be considered in patients with neurologic or cutaneous symptoms, even in the absence of ketoacidosis or organic aciduria, and that a therapeutic trial of biotin should be administered. The study also discusses the potential role of dietary biotin, absorption, intestinal flora, and biocytin in the variability of the condition. Symptoms were found to improve with pharmacologic doses of biotin, and the diagnosis can be confirmed by measuring serum biotinidase activity. The paper recommends considering biotinidase deficiency in relevant cases and confirms it is a treatable cause of infantile seizures.
74 citations
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July 1979 in “Lancet” Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
50 citations
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May 1985 in “The journal of pediatrics/The Journal of pediatrics” Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
Congenital biotinidase deficiency (CBD) is a rare metabolic disorder that can cause symptoms ranging from alopecia and skin rash to severe neurological issues. This case report discusses a six-year-old male with CBD who exhibited breathlessness, alopecia, and hearing loss. Neuroimaging showed typical features of CBD, including symmetric restricted diffusion in various brain regions. Early diagnosis and treatment with biotin supplementation led to a reversal of symptoms, highlighting the importance of prompt intervention in managing the disease.
71 citations
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January 2016 in “International Journal of Trichology” Biotin deficiency is not a major cause of hair loss in women, so biotin supplements are not likely to be an effective hair loss treatment.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
12 citations
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September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
