[11] Biotinidase

Wolf, Barry; Hymes, Jeanne; Heard, Gregory S.

doi:10.1016/0076-6879(90)84265-i

Cited by 31 publications

(38 citation statements)

References 21 publications

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“…The Vanin molecules show significant sequence similarities with human biotinidase (about 42% amino acid identities) but Vanin‐1 at least has no biotinidase activity. Biotinidase (EC 3.5.1.12) is an enzyme which participates in the recycling of biotin (vitamin B8) in the body by amidohydrolyzing biocytin [23,24]. Furthermore, Vanin molecules share with other amidohydrolases a protein domain containing one cysteine and one aspartic acid residue [14].…”

Section: Discussionmentioning

confidence: 99%

Pantetheinase activity of membrane‐bound Vanin‐1: lack of free cysteamine in tissues of Vanin‐1 deficient mice

et al. 2000

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Pantetheinase (EC 3.5.1.-) is an ubiquitous enzyme which in vitro has been shown to recycle pantothenic acid (vitamin B5) and to produce cysteamine, a potent anti-oxidant. We show that the Vanin-1 gene encodes pantetheinase widely expressed in mouse tissues : (1) a pantetheinase activity is specifically expressed by Vanin-1 transfectants and is immunodepleted by specific antibodies; (2) Vanin-1 is a GPI-anchored pantetheinase, and consequently an ectoenzyme; (3) Vanin-1 null mice are deficient in membrane-bound pantetheinase activity in kidney and liver; (4) in these organs, a major metabolic consequence is the absence of detectable free cysteamine; this demonstrates that membrane-bound pantetheinase is the main source of cysteamine in tissues under physiological conditions. Since the Vanin-1 molecule was previously shown to be involved in the control of thymus reconstitution following sublethal irradiation in vivo, this raises the possibility that Vanin/ pantetheinase might be involved in the regulation of some immune functions maybe in the context of the response to oxidative stress. ß 2000 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

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Section: Discussionmentioning

confidence: 99%

Pantetheinase activity of membrane‐bound Vanin‐1: lack of free cysteamine in tissues of Vanin‐1 deficient mice

et al. 2000

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“…Storage of samples at -20°C has been shown to lose enzyme activity over time; long-term storage should be at -80°C for quality control samples (B.W., unpublished data). 73 As noted above, the use of parental and/or unrelated controls is recommended whenever possible, although this may not be operationally feasible in all settings. Samples for DNA testing should be shipped to the laboratory at ambient temperature as soon as possible, but are stable for several days from the time of collection.…”

Section: Conditions Of Sample Shipping Handling and Storagementioning

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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“…Serum or plasma samples for diagnostic assays must be frozen at Ϫ80°C and shipped to the laboratory on dry ice. Long-term storage of samples at Ϫ20°C has been shown to lead to loss of enzyme activity and artifactually low values 46 (Wolf, unpublished data). As noted earlier, the use of parental and/or unrelated controls is recommended whenever possible, although this may not be operationally feasible in all settings.…”

Section: Conditions Of Sample Shipping Handling and Storagementioning

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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[11] Biotinidase

Cited by 31 publications

References 21 publications

Pantetheinase activity of membrane‐bound Vanin‐1: lack of free cysteamine in tissues of Vanin‐1 deficient mice

Pantetheinase activity of membrane‐bound Vanin‐1: lack of free cysteamine in tissues of Vanin‐1 deficient mice

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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