A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.

Yamaguchi, Akihiro; Fukushi, Masaru; Arai, Osamu; Mizushima, Yoshikiyo; Sato, Yasumasa; Shimizu, Yoshio; Tomidokoro, Kenkichi; Takasugi, Nobuo

doi:10.1620/tjem.152.339

Cited by 19 publications

(11 citation statements)

References 4 publications

(5 reference statements)

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“…The biotinidase activity in dried blood spots was less than 0.1 pmol/min/µL (normal control, 6.3-9.3 pmol/min/µL), supporting the diagnosis of biotinidase deficiency. 12 Biotin supplementation (20 mg/d) led to a dramatic improvement in the patient's neurological motor disorders. Five days after the commencement of treatment, paraplegia with sphincteral disorders disappeared.…”

Section: Casementioning

confidence: 99%

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Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Yang

Zhaoyue

et al. 2007

J Child Neurol

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Biotinidase deficiency is a treatable cause of severe neurological disorders and skin problems. Spinal cord impairment is a rare complication of this disease and is commonly unrecognized. The authors encountered 3 Chinese patients with progressive spinal cord demyelination associated with biotinidase deficiency. Case 1 exhibited fatigue, proximal muscular weakness, and hypotonic paraplegia from the age of 7 years 4 months. Demyelination of cervical and thoracic cord was evident on magnetic resonance imaging (MRI). Case 2 developed visual impairment, blepharoconjunctivitis, and optic nerve atrophy from 5 years of age, which combined with progressive hypertonic paralysis, ataxia, and alopecia from the age of 7 years. His spinal MRI T2-weighted sequence revealed an extensive hyperintense lesion involving the cervical spinal cord C(2) to C(4). Bilateral optic nerves were significantly thick. In case 3, intercurrent wheezing, tachypnea, dyspnea, and lethargy occurred from the age of 1 year. Medulla and upper cervical spine edema and demyelination were found on MRI. Markedly elevated urine organic acids and decreased blood biotinidase activities were observed in the 3 patients. Biotin supplementation led to a dramatic improvement of clinical symptoms in 3 patients. The findings indicate that biotinidase deficiency should be considered in the differential diagnosis of unexplained spinal cord demyelination because prompt diagnosis and treatment with biotin may enable an excellent recovery.

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Section: Casementioning

confidence: 99%

“…Biotinidase activity in dried blood spots decreased to 0.1 pmol/min/µL (normal control, 6.3-9.3 pmol/min/µL), supporting the diagnosis of biotinidase deficiency. 12 After biotin supplementation (10 mg/d), dramatic improvement was observed. Ten hours later, her tachypnea disappeared, followed by gradual neurological recovery.…”

Section: Casementioning

confidence: 99%

Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Yang

Zhaoyue

et al. 2007

J Child Neurol

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“…78 There are other methods for determining biotinidase activity, such as measuring the release of biotin from biocytin, using other fluorescent biotinylated derivatives and radioisotopic biotinylated analogs, but they are more expensive, require more time, are difficult to perform, and often are not readily adaptable to enzymatic determinations using dried blood spots. 71,[78][79][80][81][82][83] Analyses of urinary organic acids by gas chromatography/ mass spectrometry or plasma acylcarnitines by liquid chromatography-tandem mass spectrometry sometimes reveal characteristic abnormalities in patients with biotinidase deficiency. However, this approach is never appropriate as the sole testing modality in individuals suspected of having the disorder because many biotinidase-deficient patients will have normal results by analyte testing and, therefore, be missed.…”

Section: Methodsmentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.

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“…51 There are other methods for determining biotinidase activity, such as measuring the release of biotin from biocytin, 52,53 using other fluorescent biotinylated derivatives 54 and radioisotopic biotinylated analogs, 44,55 but they are more expensive, require more time, are difficult to perform, and often are not readily adaptable to enzymatic determinations using dried blood spots. 51,56 Analysis of urine organic acids by gas chromatography/mass spectrometry or plasma acylcarnitines by liquid chromatography-tandem mass spectrometry sometimes may reveal characteristic abnormalities in patients with biotinidase deficiency. However, this approach is never appropriate as the sole testing modality in individuals suspected of having the disorder because many biotinidase deficient patients will have normal results by analyte testing and, therefore, be missed.…”

Section: Methodsmentioning

confidence: 99%

Technical standards and guidelines for the diagnosis of biotinidase deficiency

Cowan

Blitzer

Wolf

2010

Genetics in Medicine

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Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticists should apply their own professional judgment to the specific clinical circumstance presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.Abstract: Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results. Genet Med 2010:12(7):464 -470.

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A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.

Cited by 19 publications

References 4 publications

Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Technical standards and guidelines for the diagnosis of biotinidase deficiency

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