Biotinidase deficiency definition

Biotinidase deficiency means a congenital disorder characterized by defective biotinidase activity that causes abnormal biotin metabolism.
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Biotinidase deficiency means an inherited disease caused by the lack of an enzyme that recycles the B vitamin biotin, which if not treated may cause serious complications, including coma and death.
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Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected and untreated, may result in severe neurological damage or death.
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Examples of Biotinidase deficiency in a sentence

  • Biotinidase deficiency can lead to seizures, developmental delay, skin rash, and hearing loss.

  • This Order / Observation group includes OBX segments that transmit result information for Biotinidase deficiency.

  • The 28 metabolic disorders currently screened for by the NMSP are:• Amino acid disorders (14 disorders, including PKU and MSUD)• Fatty acid oxidation disorders (9 disorders)• Others:› Congenital hypothyroidism› Cystic fibrosis› Congenital adrenal hyperplasia› Galactosaemia› Biotinidase deficiency.

  • Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”.

  • PHENOTYPIC FEATURES Biotinidase Deficiency Clinical Features*ProbandBiotinidase activity levelLowOther clinical featuresAbsent*The list of other clinical features are based on the OMIM clinical synopsis (#253260; Biotinidase deficiency).

  • Very simple preventive measures (e.g., penicillin prophy- laxis, vaccinations, education of parents) are available to avoid these life-threatening complications provided that the diagnosis has been made and that the family and health care Phenylketonuria and hyperphenylalaninemia 1: 4,950 Congenital adrenal hyperplasia 1: 20,488 Biotinidase deficiency 1: 61,465 Isovaleric aciduria 1: 73,758 Galactosemia 1: 105,368 professionals are aware of it.

  • Investigations should be prioritised on clinical likelihood of diagnosis, exclusion of potentially treatable causes (e.g. Wilson’s disease or Biotinidase deficiency) and exclusion of disorders for which medical intervention could prevent further deterioration (e.g. organic acidaemias).

  • For example Folinic acid responsive seizures (which may show a transient response to pyridoxine) and Biotinidase deficiency, responsive to Biotin.

  • Specimens that are unacceptable are reported as Unsatisfactory|RE^Remark^HL70364 NTE|2|L^Ancillary (filler) department is source of comment^HL70105| The SCID / TREC (T-cell receptor excision circles) test is performed by quantitative real-time polymerase chain reaction analysis to detect the number of TRECs. SCID, Biotinidase deficiency, and Hemoglobinopathy screening tests were developed /modified and performance characteristics determined by DSHS.

  • Repeat specimens were uniformly screened for: Galactosemia(s), Congenital Hypothyroidism, and Congenital Adrenal Hyperplasia.Repeat specimens with a previous abnormal result for disorders identified by Mass Spectrometry/Mass Spectrometry (MS/MS) testing, Biotinidase deficiency, Cystic fibrosis, Severe Combined Immunodeficiency, and hemoglobinopathies are retested on subsequent specimens finding other than normal.


More Definitions of Biotinidase deficiency

Biotinidase deficiency means a congenital metabolic disorder characterized by abnormal biotinidase production which causes mental if not treated early in life defective biotinidase activity that causes abnormal biotin metabolism.
Sample 1Sample 2
Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected
Sample 1Sample 2
Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The re- sult is biotin deficiency, which if undetected and untreated, may re- sult in severe neurological damage or death.
Sample 1
Biotinidase deficiency means a congenital metabolic disorder characterized by abnormal biotinidase production which causes mental retardation if not treated early in life.
Sample 1
Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of
Sample 1

Related to Biotinidase deficiency

  • Borrowing Base Deficiency means, at any date on which the same is determined, the amount, if any, that (a) the aggregate Covered Debt Amount as of such date exceeds (b) the Borrowing Base as of such date.

  • Advance Deficiency As defined in Section 4.01(b).

  • Performing Note Deficiency means any time that less than 65% of the then aggregate outstanding principal amount of all Equipment Notes are Performing Equipment Notes.

  • Gas Supply Deficiency means any occurrence relating to Sellers gas supply which causes Seller to deliver less than the total requirements of its system, including failures of suppliers to deliver gas for any reason, requirement of gas for system storage, conservation of gas for future delivery, or any other occurrence which is not enumerated herein which affects Sellers gas supply.

  • Mental deficiency means mental deficiency as defined by appropriate clinical authorities to such extent that a person so afflicted is incapable of managing himself and his affairs, but shall not include mental illness as defined herein.

  • Significant deficiency means a shortcoming in the system that materially affects the ability of officials of the Department of Defense to rely upon information produced by the system that is needed for management purposes.

  • Subordination Deficiency With respect to any Distribution Date, the excess, if any, of (a) the Specified Subordinated Amount applicable to such Distribution Date over (b) the Subordinated Amount applicable to such Distribution Date.

  • Immaterial Title Deficiencies means minor defects or deficiencies in title which do not diminish more than 2% of the aggregate value of the Oil and Gas Properties evaluated in the Reserve Report used in the most recent determination of the Borrowing Base.

  • Class C Deficiency Amount is defined in Section 4.1(c).

  • Class B Deficiency Amount is defined in Section 4.1(b).

  • Overcollateralization Deficiency For any Distribution Date will be equal to the amount, if any, by which (x) the Targeted Overcollateralization Amount for such Distribution Date exceeds (y) the Overcollateralization Amount for such Distribution Date, calculated for this purpose after giving effect to the reduction on such Distribution Date of the aggregate Class Principal Balance of the Certificates resulting from the payment of the Principal Payment Amount on such Distribution Date, but prior to allocation of any Applied Loss Amount on such Distribution Date.

  • Class A Deficiency Amount is defined in Section 4.1(a).

  • Accumulated Funding Deficiency has the meaning ascribed to that term in Section 302 of ERISA.

  • Borrowing Base Deficit means, at any time of determination, the amount, if any, by which (a) the Aggregate Capital at such time, exceeds (b) the Borrowing Base at such time.

  • Principal Deficiency Amount For any Distribution Date and for any Undercollateralized Group, the excess, if any, of the aggregate Class Certificate Principal Balance of such Undercollateralized Group immediately prior to such Distribution Date over the sum of the Principal Balances of the Mortgage Loans in the related Loan Group immediately prior to such Distribution Date.

  • Operating Deficit means that, at the end of the fiscal year, the unassigned fund balance in the General Fund is less than zero.

  • Lease Deficit Disbursement means an amount drawn under a Multi-Series Letter of Credit pursuant to a Certificate of Lease Deficit Demand.

  • Net Proceeds Deficiency shall have the meaning set forth in Section 6.4(b)(vi) hereof.

  • Overcollateralization Deficiency Amount With respect to any Distribution Date, the amount, if any, by which the Overcollateralization Target Amount exceeds the Overcollateralized Amount on such Distribution Date (assuming that 100% of the Principal Remittance Amount is applied as a principal distribution on such Distribution Date).

  • Spread Account Deficiency means the excess, if any, of the Required Spread Account Amount over the Available Spread Account Amount.

  • Collateral Deficiency Amount With respect to any AB Modified Loan as of any date of determination, the excess of (i) the Stated Principal Balance of such AB Modified Loan (taking into account the related junior note(s) included therein), over (ii) the sum of (in the case of a Loan Combination, solely to the extent allocable to the subject Mortgage Loan) (x) the most recent Appraised Value for the related Mortgaged Property or Mortgaged Properties, plus (y) solely to the extent not reflected or taken into account in such Appraised Value and to the extent on deposit with, or otherwise under the control of, the lender as of the date of such determination, any capital or additional collateral contributed by the related Mortgagor at the time the Mortgage Loan became (and as part of the modification related to) such AB Modified Loan for the benefit of the related Mortgaged Property or Mortgaged Properties (provided, that in the case of an Outside Serviced Mortgage Loan, the amounts set forth in this clause (y) will be taken into account solely to the extent relevant information is received by the Special Servicer), plus (z) any other escrows or reserves (in addition to any amounts set forth in the immediately preceding clause (y)) held by the lender in respect of such AB Modified Loan as of the date of such determination. The Certificate Administrator, the Master Servicer and the Operating Advisor (other than with respect to any Collateral Deficiency Amount calculations that the Operating Advisor is required to review, recalculate and/or verify pursuant to Section 3.29) shall be entitled to conclusively rely on the Special Servicer’s calculation or determination of any Collateral Deficiency Amount.

  • Foreign Prepayment Event has the meaning assigned to such term in Section 2.11(g).

  • Daily Deficiency Rate means the rate employed to assess certain deficiency charges under Xxxxxx, Attachment DD, section 7, Tariff, Attachment DD, section 8, Tariff, Attachment DD, section 9, or Tariff, Attachment DD, section 13.

  • Step Up Event means a failure to meet the Minimum Rating Requirement at any time, unless:

  • Reserve Account Deficiency shall have, for any Distribution Date, the meaning specified for such Distribution Date in Section 4.6(b) of the Sale and Servicing Agreement.

  • Supply Failure shall have the meaning ascribed to it in Section 2.8.