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.

  • Delete ICD-10-CM D81.810 (Biotinidase deficiency) from line 192 HEREDITARY ANGIOEDEMA2) For the January 1, 2024 Prioritized List:a.

  • Biotinidase deficiency GeneralBiotinidase deficiency is screened for in 10 countries (see table 2).

  • Biotinidase deficiency: initial clinical features and rapid diagnosis.

  • Biotinidase deficiency: prevalence, impact and management strategies.

  • Learn how to connect people with appropriate supportsA poster presentation describing the Alaska Gatekeeper Training model redevelopment was prepared for the 2014 SAMSHA State/Tribal Youth Suicide Prevention Cooperative Agreement grantee meeting in Washington DC.

  • Biotinidase deficiency received the highest scores for the criteria efficacy of early vs late treatment and timely availability of test results (Figure 6).

  • For the purpose of this chapter amino acid disorders include: Argininosuccinic aci- demia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I).(2) "Board" means the Washington state board of health.(3) "Biotinidase deficiency" means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin.

  • 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.

  • Evercore, as financial adviser to Connells and Skipton, is satisfied that sufficient resources are available to Connells to satisfy in full the Cash Consideration payable to Countrywide Shareholders under the terms of the Acquisition.


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 1Sample 2

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.

  • 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.

  • 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.

  • 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.

  • Operating Deficit means, for the applicable period, insufficient funds to pay operating costs when Cash Expenses exceed Cash Receipts, as determined by the Accountant and approved by the Special Limited Partner.

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

  • 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.

  • 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 set forth in Section 7.6.1.

  • Milestone Failure means a failure by the Grant Recipient fully to achieve any Milestone by the relevant Milestone Date;