Biotin Supplementation Research Articles

Biotin as a masking agent in chorionic gonadotropin assays utilizing biotinylated antibodies.

Biotin interference in streptavidin/biotin-based immunoassays has been recently recognized as a confounding factor in clinical settings. Depending on the nature of the assay, the presence of excess biotin in patient samples can cause falsely high or low results. One of the platforms known to be affected, Roche Cobas, is widely used in anti-doping laboratories to test for intact chorionic gonadotropin (hCG) in urine. While biotin levels in blood have been well studied, less is known about urinary biotin due to its limited clinical significance. Having analyzed over 4,000 urine samples, we have established a reference range for urinary biotin with a median concentration of approximately 12 ng/ml. However, a significant number of samples contain much higher amounts, with a maximum approaching 10μg/ml, suggesting biotin supplementation. Consequently, the tolerance of hCG STAT assay towards biotin was investigated over a wide concentration range. The apparent hCG concentration was found to decrease almost linearly as biotin increased from 100 to 1,000 ng/ml, with only 10% of the expected value reported by the assay as biotin reached 1,000 ng/ml. Further increase of biotin resulted in a progressive, albeit more moderate, decline in measured hCG concentration. To avoid a false negative result in the context of anti-doping analysis, it is highly recommended to monitor biotin in urine and perform diafiltration before hCG measurement in samples with elevated biotin to remove the interference.

Lasers, lights, and compounds for hair loss in aesthetics

Hair loss is a common complaint that is often stressful for patients and a challenge for practitioners to treat. Fortunately, innovations in the field have contributed to growing evidence for several promising topical, oral, and light and energy-based therapies. We have reviewed the current literature about the efficacy of these treatments, including topical agents (finasteride, latanoprost, spironolactone, caffeine, and metformin), oral minoxidil, nutraceuticals, platelet-rich plasma, low-level laser therapy, fractional lasers, and laser-assisted drug delivery. In addition, several debates related to these treatments have been discussed, including post-finasteride syndrome, effects of biotin supplementation on laboratory testing, standardization of platelet-rich plasma and low-level laser therapy, and combination treatment to enhance hair transplantation.

The biotin interference within interference suppressed immunoassays.

BackgroundReports of false laboratory findings due to a biotin supplementation have raised concerns about the safety of immunoassays. According to current research, biotin is known to cause interference in immunoassays. Since up to 70% of medical decisions are based on laboratory results and the significantly increased intake of biotin supplements in the recent years, the reliability of immunoassays is essential.MethodsTo evaluate this reliability two experiments were conducted. In the first experiment 59 interference suppressed immunoassays of the manufacturer Roche Diagnostics were examined regarding their sensitivity to a biotin interference. In the second experiment the pharmacokinetic of biotin was examined by supplementing volunteers with biotin.ResultsA combination of the results of both experiments suggests that a biotin interference in laboratory findings is probable. Contrary to the current state of research on sandwich immunoassays, falsely elevated test results occur more frequently than falsely low results.ConclusionThe interference suppressed immunoassays have shown in the experiment that they are susceptible to a biotin interference. Therefore, laboratory institutions, medical staff and patients must be aware of the possibility of a biotin interference. As a result, Roche Diagnostics may consider reviewing the interference suppression and their indications of the tests.

45-Year-Old Woman With Fever and Malaise

45-Year-Old Woman With Fever and Malaise

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases were mainly from Saudi Arab regions, and presented with relatively simple clinical course because of the hot spot mutation (T422A). Rare Chinese cases were described until now. In this study, we investigated 18 Chinese THMD2 patients with variable phenotypes, and identified 23 novel SLC19A3 mutations, which expanded the genetic and clinical spectrum of the disorder. Meanwhile, we reviewed all 146 reported patients from different countries. Approximately 2/3 of patients presented with classical BTBGD, while 1/3 of patients manifested as much earlier onset and poor prognosis, including infantile Leigh-like syndrome, infantile spasms, neonatal lactic acidosis and infantile BTBGD. Literature review showed that elevated lactate in blood and CSF, as well as abnormal OXPHOS activities of muscle or skin usually correlated with infantile phenotypes, which indicated poor outcome. Brainstem involvement on MRI was more common in deceased cases. Thiamine supplementation is indispensable in the treatment of THMD2, whereas combination of biotin and thiamine is not superior to thiamine alone. But biotin supplementation does work in some patients. Genotypic-phenotypic correlation remains unclear which needs further investigation, and biallelic truncated mutations usually led to more severe phenotype.

Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency

Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.

Abstract #1038067: Clinical Hypothyroidism Masked Biochemically due to Biotin Supplements???

Biotin( Vitamin B7) is widely available as an over the counter supplement for skin, hair and nail health. Many immunoassays use the biotin-streptavidin interaction as an immobilizing system, in which biotin can be readily incorporated into a hormone. Ingestion of high doses of biotin has been reported to cause abnormal results in thyroid function tests by this assay interference. Hereby we describe the case of a patient with clinical hypothyroidism but biochemically hyperthyroid due to biotin supplementation.

Biotin Interference in Assays for Thyroid Hormones, Thyrotropin and Thyroglobulin.

Background: Biotin has been reported to interfere with several commonly used laboratory assays resulting in misleading values and possible erroneous diagnosis and treatment. This report describes a prospective study of possible biotin interference in thyroid-related laboratory assays, with a comparison of different commonly used assay platforms. Materials and Methods: Thirteen adult subjects (mean age 45 ± 13 years old) were administered biotin 10 mg/day for eight days. Blood specimens were collected at three time points on day 1 and on day 8 (baseline, two, and five hours after biotin ingestion). Thyrotropin (TSH), free triiodothyronine (fT3), free thyroxine (fT4), total triiodothyronine (TT3), total thyroxine (TT4), thyroxine binding globulin (TBG), and thyroglobulin (Tg) levels were analyzed with four different platforms: Abbott Architect, Roche Cobas 6000, Siemens IMMULITE 2000, and liquid chromatography with tandem mass spectrometry (LC-MS/MS). TSH, fT3, fT4, TT3, and TT4 were measured with Abbott Architect and Roche Cobas 6000. fT3, fT4, TT3, and TT4 were also measured by LC-MS/MS. Tg was measured by Siemens IMMULITE 2000. TBG was assessed with Siemens IMMULITE 2000. Results: Significant changes in TSH, fT4, and TT3 measurements were observed after biotin exposure when the Roche Cobas 6000 platform was used. Biotin intake resulted in a falsely lower Tg level when measurements were performed with Siemens IMMULITE 2000. At the time points examined, maximal biotin interference was observed two hours after biotin exposure both on day 1 and day 8. Conclusions: A daily dose of 10 mg was shown to interfere with specific assays for TSH, fT4, TT3, and Tg. Physicians must be aware of the potential risk of erroneous test results in subjects taking biotin supplements. Altered test results for TSH and Tg can be particularly problematic in patients requiring careful titration of levothyroxine therapy such as those with thyroid cancer.

Efficient induction of proximity-dependent labelling by biotin feeding in BMAL1-BioID knock-in mice.

Proximity-dependent biotin identification (BioID) is a useful method to identify unknown protein-protein interactions. Few reports have described genetically engineered knock-in mouse models for in vivo BioID. Thus, little is known about the proper method for biotin administration and which tissues are applicable. Here, we established a BioID knock-in mouse model of Brain and Muscle ARNT-Like 1 (BMAL1) and the BirA biotin ligase with R118G mutation (BirA*). The BMAL1-BioID mouse model was used to investigate the effect of biotin diet feeding on protein biotinylation in several tissues. The BMAL1-BirA* fusion protein-retained proper intracellular localization of BMAL1 and binding to CLOCK protein in HEK293T cells. A biotin labelling assay in mouse embryonic fibroblasts revealed the protein biotinylation activity of BMAL1-BirA* expressed in knock-in mouse cells depending on biotin supplementation. Lastly, feeding a 0.5% biotin diet for 7 days induced protein biotinylation in the brain, heart, testis and liver of BMAL1-BioID mice without adverse effects on spermatogenesis. In the kidney, the biotin diet increased biotinylated protein levels in BMAL1-BioID and control mice, suggesting the existence of endogenous biotinylation activity. These results provide valuable information to optimize the in vivo BioID procedure.

Effect of biotin supplementation on neuropathic pain induced by chronic constriction of the sciatic nerve in the rat.

Background and purpose:Neuropathic pain is one of the most common types of chronic pain that is very difficult to treat. Numerous studies have shown the potential role of vitamins in relieving both hyperalgesia and allodynia. Based on the convincing evidence, this study was designed to evaluate the possible antinociceptive effect of biotin on neuropathic pain in rats.Experimental approach:This study was performed on male Sprague Dawley rats weighing 200-300 g. Neuropathic pain was induced by tying the sciatic nerve. Chronic constriction injury (CCI) of the sciatic nerve resulted in hyperalgesia and allodynia. To measure the thermal hyperalgesia, the plantar test was used. Also to evaluate the cold and mechanical allodynia, acetone test and von Frey test were applied. Biotin (4, 8, and 16 mg/kg) was administered orally as two different treatment regimens, acute and chronic.Findings/Results:Acute oral administration of biotin (4, 8, and 16 mg/kg p.o.) on the 7th, 14th, and 21st postoperative days couldn’t reduce pain sensitivity compared to the CCI group. However, following the oral administration of biotin (8 and 16 mg/kg p.o.) from the first day after the surgery until day 21, mechanical allodynia (P < 0.001) and heat hyperalgesia (P < 0.05) significantly relieved.Conclusion and implications:Our results suggest that biotin can be considered as a potential therapeutic for the treatment of neuropathic pain, and supplementation with this vitamin could reduce the required doses of analgesic drugs. However, further studies are needed to confirm this hypothesis.

Diagnostic Dilemma: A Case of Undetectable TSH

Introduction: Under steady-state conditions, measurement of TSH is accepted as the best assessment of thyroid function. The widely used TSH chemiluminometric assays have very low limits of detection and can help distinguish between the various causes of subnormal TSH. However, when evaluating a patient with abnormal thyroid tests but without thyroid symptoms, an appraisal of the test should be considered. Clinical Case: A 63-year-old South Asian man was referred to endocrinology for evaluation of a non-detectable TSH (<0.01 µIU/mL) that was reproduced on repeat testing, both using Siemens ADVIA Centaur TSH3-UL immunoassay. The patient was clinically euthyroid and denied taking biotin supplements. Testing of thyroid hormone showed normal values for free T3, total T3, free T4, and total T4. Additional labs included normal studies for free thyroxine by equilibrium dialysis, thyroid stimulating immunoglobulin, and heterophilic antibodies. Thyroid uptake and scan showed uniform uptake of 5.1% and 15.1% at 2-hours and 24-hours, respectively, with no dominant nodules. Hypothalamic-pituitary hormonal testing and MRI pituitary were both normal as well. When TSH testing was repeated on a separate platform, Roche’s eCLIA immunoassay, detectable values were obtained (TSH 6.48 µIU/mL). Conclusions: Testing of serum TSH by commercially available immunoassays is based on the sandwich method in which one antibody binds to the β-subunit of TSH and the other to the α-β interface. Most assays use monoclonal antibody pairs to achieve high selectivity. Immunoassay tests are prone to interferences, particularly by way of altering the measurable concentration of the analyte or by altering antibody binding (1). In this case, the presence of detectable TSH depended on the platform by which it was measured. This finding suggests a TSH-β variant with impaired immunoreactivity but functionally normal bioactivity. Such a mutation has been previously reported to occur five times more frequently among South Asian individuals than the general population (2). Genetic testing was offered to the patient to confirm this suspicion but was declined.It is incumbent on the clinician to reconcile a test result that is discordant with the clinical presentation. Having a fundamental understanding of the principles of the testing platform can assist in identifying potential sources of error. Failing to recognize a possible interference can lead to unnecessary healthcare expenditures, misdiagnosis and inappropriate management, potentially at a cost to the patient’s wellbeing. When faced with an undetectable TSH with otherwise normal thyroid hormones and unremarkable clinical picture, it is best to repeat the TSH test using a different available platform.

Biotin Supplementation Creates the Misleading Diagnosis of Secondary Adrenal Insufficiency

Introduction: Biotin (vitamin B7) is a water-soluble vitamin and an essential cofactor for the metabolism of fatty acids, glucose, and amino acids. Cases of biotin interference with laboratory testing have been described, most of which involve interference with thyroid function tests. Interference with gonadal steroids, adrenal, and pituitary hormones are rare. We report a case of T3 thyrotoxicosis in which biotin supplementation created the appearance of secondary adrenal insufficiency (AI).Case: A 66-year-old woman was referred for the evaluation of low TSH. She had chronic fatigue, low libido, and dizziness on standing. Vitals were stable with BP 135/64 mmHg and BMI 23.5. No evidence of mucosal or cutaneous hyperpigmentation. Laboratory evaluation revealed low ACTH <5 (7.2–63.3 pg/mL), low morning cortisol 3.8 and high DHEA-S 174 (13–130 ug/dL). TSH was low at 0.32 (0.32–5.60 uIU/mL) with normal prolactin and appropriately elevated FSH and LH. The labs raised concern for secondary AI. Cosyntropin stimulation test (CST) was done with a peak cortisol of 17.4 ug/dL. In the setting of suppressed ACTH and failed CST, she was started on Hydrocortisone therapy. Subsequently, CT of abdomen was obtained due to high DHEA-S which showed normal appearance of both adrenals. Pituitary MRI was normal. A detailed review of the medication list revealed that the patient was taking a Biotin containing multivitamin. Repeat labs 1 week after stopping biotin showed normalization of ACTH 13.8 (7.2–63.3). Repeat CST showed a peak cortisol response of 24 ug/dL. Hydrocortisone was discontinued and the patient remained stable on subsequent follow-ups, without the need for further glucocorticoid replacement therapy. Thyroid lab abnormalities persisted after biotin cessation which led to the diagnosis of T3 thyrotoxicosis, the treatment of which caused resolution of the patient’s symptoms.Discussion: The recommended daily intake of biotin for adults is 30 µg/d. Many over-the-counter products, specifically those marketed for hair, skin, and nail growth, contain biotin 100-fold higher than the recommended intake. Biotin interference with competitive immunoassays can cause falsely elevated hormone levels, whereas biotin interference with immunometric “sandwich” assays falsely lowers hormone levels. In our case, low ACTH was clinically misleading, prompting numerous unnecessary radiographic and laboratory testing and treatment with hydrocortisone. The US Food and Drug Administration issued a safety communication regarding biotin interference with laboratory tests. Education and communication between laboratorians, providers, and patients play an important role in investigating potential lab interference and the need for alternative lab assays for an accurate diagnosis. Patients should be asked to stop taking biotin supplements for at least 48 hours prior to specimen collection if possible.

Severe Obesity Is Associated with Altered Gut Microbiota Biotin Metabolism and Host Biotin Status

Severe obesity is associated with major tissue alterations and systemic low-grade inflammation as well as with modifications of gut microbiota composition and functionality. Yet, there is increasing evidence revealing that the gut microbiota could influence metabolic health via the production of many microbiota-derived metabolites which contribute to complex interorgan dialogs. Vitamins and more specifically B vitamins have been neglected in this context. Amongst them, Vitamin B7/biotin plays an important role in many physiological functions including carbohydrate and lipid metabolism. Although, biotin supplementation is suggested to improve glucose metabolism in type 2 diabetes (T2D), this vitamin has not been widely studied in metabolic disorders including subjects with severe obesity. We, here, investigated both the bacterial and host metabolism of biotin, using large scale data from the European cohort Metacardis and different murine models. Examining metagenomic data of gut microbiota from human with worsening stages of obesity and diet-induced obesity in mice revealed deficiency in biotin microbial production and transport. This altered gut microbial metabolism was associated with metabolic and inflammatory deterioration in the human host. In the same subjects with severe obesity, we found suboptimal circulating levels of biotin and altered expression of biotin-associated genes in adipose tissue. Then, we demonstrated the contribution of the gut microbiota to the host circulating biotin by a series of experiments performed in Germ-free animals, antibiotic-treated mice and after gut microbiota transfer (from human to mice). Furthermore, we studied gut microbiota biotin metabolism in the context of obesity management. First, bariatric surgery, which is known to improve metabolism and inflammation and to induce changes in gut microbiota composition, was associated with increased bacterial biotin producers together with improved systemic biotin in mice and humans. Second, the concomitant management of biotin status and dysbiosis in the context of installed obesity in mice was explored. The oral supplementation of mice with installed obesity with both biotin and a prebiotic fructoligosaccharide (FOS) led to limited weight gain and glycemic deterioration compared to animals with no supplementation. The mice supplemented by FOS and biotin also improved their bacterial biotin metabolism better than the other groups. Altogether, these results suggest the importance of biotin, and more generally B vitamins, in severe obesity and pave the way for future clinical investigation of biotin and prebiotic administration in humans to prevent obesity from transitioning to a more severe metabolic state.

Validation of a Commercial Reagent for the Depletion of Biotin from Serum/Plasma: A Rapid and Simple Tool to Detect Biotin Interference with Immunoassay Testing

It is important for clinical laboratories to have protocols for investigating suspected biotin interference in patient samples. VeraPrep Biotin™ is a commercial product used to rapidly deplete biotin from serum/plasma samples. The objectives of this study were to verify that VeraPrep Biotin™: (a) does not impact immunoassay analyte recovery in control samples and (b) can effectively deplete biotin from samples (both biotin-spiked and samples from donors who ingested biotin supplements). De-identified residual waste serum/plasma samples were combined to create 9 pools for each immunoassay. Plasma/serum samples (n = 23) were obtained from 6 healthy donors at varying times following ingestion of biotin (20 mg, 100 mg, or 200 mg). Nine Elecsys immunoassays were evaluated using the e 602 (Roche Diagnostics Inc.). Control, biotin-spiked (n = 10, ∼400 ng/mL), and donor samples were assayed pre- and post-VeraPrep treatment. Percentage analyte recovery [(posttreatment/pretreatment) × 100] was calculated for control samples. A laboratory-developed LC-MS/MS method was used to quantify biotin. In control samples (n = 81), 90-110% analyte recovery was observed post-VeraPrep treatment in over 95% of samples (77/81). The pre- and post-VeraPrep treatment biotin concentration [mean ± standard deviation (SD)] for specimens spiked with up to 500 ng/mL biotin was 357 ± 47 ng/mL and 1.0 ± 0.6 ng/mL, respectively. The mean (range) biotin concentration for the donor samples pre- and post-treatment was 166 (15-1029) ng/mL and 0.2 (<0.1-3) ng/mL, respectively (P = 0.004). These data demonstrate that treatment with VeraPrep Biotin™ does not affect analyte recovery in biotin-negative samples and effectively depletes both spiked and endogenous biotin in serum/plasma.

Diffused Alopecia Followed by Severe Acute Respiratory Syndrome Coronavirus-2 Infection

Severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2) infection has a wide range of consequences of human body. In the literature, only a few cases with uncertain hair fall related to COVID-19 infection. In the case report, we enumerated a case of 33-year-old female with alopecia followed by SARS-Cov-2 infection. On the visit, the patient was afebrile; vitals were within normal range and breathing normally. The patient was not suffering from any stress, and her psychological status was sound. Physical examination revealed asymptomatic alopecia on the temporal region of her scalp. The scalp area was smooth, and there was no inflammation was there. The pull test outcome was positive. The patient was managed with topical lotions and biotin supplements. After 1 month, the hair fall was limited and pull test found negative. No cutaneous infection was observed on the scalp. The present case showed alopecia as a rare complication of SARS-Cov-2 infection. Early initiation of the therapy can decline the consequences of alopecia among SARS-Cov-2 patients.

Prevalence of Detectable Biotin in Five US Emergency Department Patient Cohorts

BackgroundThe objective of this study was to estimate the prevalence of biotin supplementation in United States emergency department patients using a multi-site, geographically distributed sampling model. MethodsBiotin was measured using an Abbott ARCHITECT Biotin research use only assay in 7118 emergency department patient serum or plasma samples from five US medical centers. Samples with biotin ≥10 ng/mL underwent additional LC-MS/MS confirmatory testing for biotin and its primary metabolites. The overall and site-specific prevalence of detectable biotin was determined using the screening assay while biotin speciation (i.e., prevalence of detectable metabolites) was determined using LC-MS/MS. ResultsOf 7118 samples screened, 291 (4.1%) had biotin ≥10 ng/mL and were considered positive. Across five medical centers, the fraction of positive samples ranged from 2.0% to 5.4%. The maximum biotin concentration observed was 355 ng/mL. Of the 285 positive screens that underwent additional LC-MS/MS testing, 89 (31%) showed detectable biotin, bisnorbiotin, and/or biotin sulfoxide. Biotin, bisnorbiotin, and biotinsulfoxide were detected in 82/89 (92.1%), 61/89 (68.5%), and 18/89 (20.2%) samples, respectively; biotin was detected in the absence of either metabolite in 18/89 (20.2%) samples. ConclusionsUsing a screening assay, 4.1% of emergency department patient samples were found to be potentially susceptible to interference from biotin. Confirmatory testing showed detectable biotin and/or biotin metabolites in 31% of positive screens (1.3% overall). The prevalence of biotin ≥10 ng/mL varied 2–3-fold across US emergency department patient cohorts. Biotin metabolites were observed in 80% of samples confirmed to have detectable biotin species by LC-MS/MS, suggesting that rigorous assessments of assay susceptibility to biotin interference, often performed using in vitro studies, should consider the potential role of biotin metabolites present in vivo.

Evaluation of biophysical skin parameters and hair changes in patients with acne vulgaris treated with isotretinoin, and the effect of biotin use on these parameters.

Impairment of biotin metabolism with the use of isotretinoin and the mucocutaneous side effects observed in patients using isotretinoin suggests that they are a result of decreased enzyme activity. We aimed to determine the pattern of skin and hair changes in patients with acne receiving isotretinoin and how these changes were affected by biotin added to the treatment. Sixty patients were divided into two groups. Each group contained 30 patients. Groups A and B received 0.5mg/kg/day isotretinoin, and 10mg/day biotin supplement was added to Group B. Both groups were evaluated using a digital dermoscope for hair changes and with a DermaLab® Combo device for transepidermal water loss (TEWL), skin retraction, skin hydration, and skin sebum levels at the beginning and end of the fourth month. In group B, the anagen hair ratio increased (P=0.034) and the telogen hair ratio decreased significantly (P=0.003). Skin sebum and the skin retraction values decreased in both groups. Skin hydration decreased significantly in group A (P=0.001), but there was no significant decrease in group B (P=0.43). Biotin (10mg/day) given in addition to isotretinoin treatment decreased telogen and increased anagen hair rates and helped to maintain skin hydration. The use of 10mg/day biotin can prevent the mucocutaneous adverse effects of isotretinoin treatment.

Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution

Endocrine disorders are more common and appear earlier in people with trisomy 21 (T21) than in the general population, with thyroid dysfunction being the most common, including both congenital and acquired hypothyroidism. The treatment for biotinidase deficiency, a condition that occurs in approximately 1 : 110,000 people, is with biotin (vitamin B7) supplementation. However, biotin can interfere with endocrine laboratory assays and cause falsely low thyroid-stimulating hormone (TSH) and elevated free thyroxine (FT4) levels. This can interfere with the timely diagnosis and subsequent treatment of congenital hypothyroidism (CH). This case report describes an infant with partial biotinidase deficiency that was confirmed on day 10 of life. Routine screening erroneously reported “normal” TSH that caused delayed diagnosis of CH due to interference with the TSH assay from concurrent biotin use. Once the biotin treatment was withheld for 4 days and the thyroid function tests repeated, an elevated TSH became apparent. Treatment with tablet levothyroxine (L-T4) was started and subsequently changed to L-T4 oral solution (Tirosint®-SOL) to overcome treatment administration difficulties encountered with the tablet form. This resulted in improved TSH control due to more accurate and consistent dosing compared with the tablet formulation. This is the first report of the use of L-T4 oral solution in an infant with T21 and biotinidase deficiency.

Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss.

Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic-ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.

Continuation of Over-the-Counter Biotin Supplements in the Inpatient Setting: An Unexpected Source of Laboratory Error.

Over the past decade, use of high-dose biotin has increased significantly and can lead to erroneous results on some clinical immunoassays. In collaboration with pharmacists at our institution, we discovered that high biotin doses were being administered to inpatients as a continuation of patient-reported home biotin use. This retrospective study evaluated high-dose biotin administration in 226 inpatient encounters from 2009 to 2019 and its potential impact on concurrent immunoassay testing. In 96% of cases, biotin was administered in the inpatient setting as a continuation of patient-reported home use. In total, 322 immunoassays capable of biotin interference were performed across 100 inpatient encounters with high-dose biotin administration. Troponin T and TSH were the most commonly performed immunoassays in this cohort. Even though less than 5% of all high-dose biotin orders at our institution are placed for inpatients, hospitalized patients are still at risk for mismanagement due to erroneous immunoassay results. Immunoassay testing susceptible to biotin interference was performed in approximately 45% of inpatient encounters with biotin administration. Laboratories utilizing biotin-susceptible, sensitive cardiac troponin assays should be particularly cautious. Pharmacokinetic data for biotin clearance is especially lacking for certain populations likely to be hospitalized, such as those with renal failure. Given that medical conditions requiring high-dose biotin therapy are extremely rare, we recommend restricting biotin dosing during inpatient encounters for all other patients.