Biotinidase deficiency - clinching the diagnosis rapidly can make all the difference!

Rajendiran, Ashwin; Sampath, Sowmya

doi:10.1136/bcr.07.2011.4494

Cited by 10 publications

(5 citation statements)

References 6 publications

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“…Beyond 3 months of life, the infantile form predominates and is defined by a biotinidase deficiency which is involved in the absorption of free biotin following carboxylase degradation [18,28,30]. Whether acquired or congenital, typical symptoms of biotin deficiency include alopecia, eczematous skin rashes, seborrheic dermatitis, conjunctivitis, and multiple neurological symptoms, such as depression, lethargy, hypotonia, and seizures [3,20]. While the neurological symptoms occur at more severe levels of biotin deficiency, the dermatological manifestations often appear first and are therefore an important indicator [31].…”

Section: Discussionmentioning

confidence: 99%

A Review of the Use of Biotin for Hair Loss

Patel

Swink

Castelo‐Soccio

2017

Skin Appendage Disord

110

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Background: Biotin has gained commercial popularity for its claimed benefits on healthy hair and nail growth. Despite its reputation, there is limited research to support the utility of biotin in healthy individuals. Objective: To systematically review the literature on biotin efficacy in hair and nail growth. Methods: We conducted a PubMed search of all case reports and randomized clinical trials (RCTs) using the following terms: (biotin and hair); (biotin and supplementation and hair); (biotin supplementation); (biotin and alopecia); (biotin and nails); (biotin and dermatology), and (biotin recommendations). Results: We found 18 reported cases of biotin use for hair and nail changes. In all cases, patients receiving biotin supplementation had an underlying pathology for poor hair or nail growth. All cases showed evidence of clinical improvement after receiving biotin. Conclusions: Though its use as a hair and nail growth supplement is prevalent, research demonstrating the efficacy of biotin is limited. In cases of acquired and inherited causes of biotin deficiency as well as pathologies, such as brittle nail syndrome or uncombable hair, biotin supplementation may be of benefit. However, we propose these cases are uncommon and that there is lack of sufficient evidence for supplementation in healthy individuals.

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Section: Discussionmentioning

confidence: 99%

A Review of the Use of Biotin for Hair Loss

Patel

Swink

Castelo‐Soccio

2017

Skin Appendage Disord

110

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show abstract

“…Clinical features such as vomiting, hypotonia and seizures accompanied by metabolic acidosis or mild hyperammonemia are often observed in inherited metabolic diseases (5). Individuals with BD may exhibit clinical features that are misdiagnosed before being correctly identified (7,8). Biotinidase determination in serum/plasma is the best way to diagnose BD.…”

Section: Discussionmentioning

confidence: 99%

A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Demirtürk¹,

Şentürk²,

Köse³

et al. 2016

Balkan Med J

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“…Affected children may have ketolactic acidosis, organic aciduria, and/or mild hyperammonaemia. Cutaneous manifestations include scaly erythematous plaques over the flexors and perioral areas and seborrhoeic dermatitis‐like eruptions . They can also present with features mimicking acrodermatitis.…”

mentioning

confidence: 99%