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Glossary Biotinidase Deficiency

rare genetic disorder impairing biotin recycling, causing hair loss

Biotinidase Deficiency is a rare genetic disorder where the body cannot properly recycle biotin, a vital B-vitamin necessary for various metabolic processes. This deficiency can lead to symptoms like hair loss (alopecia), skin rashes, and neurological issues if untreated, but it can be managed effectively with biotin supplements.

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5 / 173 results

research Phenotypic variation in biotinidase deficiency

184 citations , August 1983 in “The journal of pediatrics/The Journal of pediatrics”

In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.

research Biotin and biotinidase deficiency

166 citations , November 2008 in “Expert Review of Endocrinology & Metabolism”

This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.

research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

89 citations , January 2020 in “PubMed”

This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.

research Partial biotinidase deficiency: Clinical and biochemical features

86 citations , January 1990 in “The Journal of Pediatrics”

This study suggests that biotin therapy may be beneficial for individuals with partial biotinidase deficiency, as some developed symptoms later, which resolved with treatment.

research Biotinidase deficiency: a survey of 10 cases.

72 citations , October 1988 in “Archives of Disease in Childhood”

This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.

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