Multiple carboxylase deficiency definition

Multiple carboxylase deficiency means a congenital disorder characterized by an inability to transport or metabolize biotin that leads to defective activity of propionyl-CoA carboxylase, beta-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase.
Sample 1Sample 2Sample 3
Multiple carboxylase deficiency means a congenital disorder characterized by an inability to transport or metabolize biotin that leads to defective activity of propi- onyl-CoA carboxylase, beta-methylcrotonyl-CoA car- boxylase, and pyruvate carboxylase.
Sample 1
Multiple carboxylase deficiency means a congenital disorder characterized by an inability to transport or
Sample 1

Examples of Multiple carboxylase deficiency in a sentence

  • Medical consultant phones practitioner with follow-up recommendations.C5-OH (Methylcrotonyl) >1.50 µM/L* 2-Methyl-3-hydroxy butyryl CoA dehydrogenasedeficiency possible* 3-Methylcrotonyl CoA carboxylase deficiencypossible* 3-Methylglutaconyl CoA hydratase deficiencypossible* Multiple carboxylase deficiency possible* False positiveNBS nurse faxes results.

  • Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

  • Multiple acyl-CoA dehydrogenase deficiency (GA2); (aa) Multiple carboxylase deficiency (MCD);(ab) Propionic acidemia (PROP);(ac) Trifunctional protein deficiency (TFP); (ad) Tyrosinemia; and(ae) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD).

  • Medical consultant phones practitioner with follow-up recommendations.C3 (Propionyl) >7.50 µM/L C3/C2 >0.30 µM/L* Methylmalonic acidemias possible* Multiple carboxylase deficiency possible* Propionic acidemia possible* False positiveNBS nurse faxes results.

  • Multiple carboxylase deficiency: clinical and biochemical improvement follow- ing neonatal biotin treatment.

Related to Multiple carboxylase deficiency

  • 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.

  • Gas Supply Deficiency means any occurrence relating to Seller's 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 Seller's gas supply.

  • Borrowing Base Deficiency means, as of any date of determination, the positive amount, if any, by which (i) the aggregate Loans Outstanding exceeds (ii) the Borrowing Base.

  • 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).

  • Maximum horizontal acceleration in lithified earth material means the maximum expected horizontal acceleration depicted on a seismic hazard map, with a 90 percent or greater probability that the acceleration will not be exceeded in 250 years, or the maximum expected horizontal acceleration based on a site-specific seismic risk assessment.

  • Silicone-based Multi-purpose Lubricant means any lubricant which is:

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

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

  • Maximum Generation Emergency Alert means an alert issued by the Office of the Interconnection to notify PJM Members, Transmission Owners, resource owners and operators, customers, and regulators that a Maximum Generation Emergency may be declared, for any Operating Day in either, as applicable, the Day-ahead Energy Market or the Real-time Energy Market, for all or any part of such Operating Day. Maximum Run Time:

  • 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.

  • Loop Concentrator/Multiplexer or "LCM" is the Network Element that does one or more of the following: aggregates lower bit rate or bandwidth signals to higher bit rate or bandwidth signals (multiplexing); disaggregates higher bit rate or bandwidth signals to lower bit rate or bandwidth signals (demultiplexing); aggregates a specified number of signals or channels to fewer channels (concentrating); performs signal conversion, including encoding of signals (e.g., analog to digital and digital to analog signal conversion); or in some instances performs electrical to optical (E/O) conversion. LCM includes DLC, and D4 channel banks and may be located in Remote Terminals or Central Offices.

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

  • 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.

  • Excess Concentration Amount means, as of any date of determination on which any one or more of the Concentration Limitations are exceeded, an amount (calculated by the Servicer and without duplication) equal to the Dollar Equivalent of the portion of the Adjusted Principal Balance of each Eligible Collateral Loan that causes such Concentration Limitation to be exceeded.

  • 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, 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.

  • Subproject means a development activity proposed by a Beneficiary under Part A.2 (d) of the Project and financed or to be financed through a Subproject Grant (as hereinafter defined) made out of the proceeds of the Development Credit;

  • MI 61-101 means Multilateral Instrument 61-101 – Protection of Minority Security Holders in Special Transactions.

  • Maximum Generation Emergency means an Emergency declared by the Office of the Interconnection to address either a generation or transmission emergency in which the Office of the Interconnection anticipates requesting one or more Generation Capacity Resources, or Non- Retail Behind The Meter Generation resources to operate at its maximum net or gross electrical power output, subject to the equipment stress limits for such Generation Capacity Resource or Non-Retail Behind The Meter resource in order to manage, alleviate, or end the Emergency.

  • Overcollateralization Target Amount As of any Distribution Date, 1.30% of the Initial Aggregate Receivables Principal Balance.

  • Subprojects means more than one such Subproject.

  • Deactivation Avoidable Cost Credit means the credit paid to Generation Owners pursuant to Tariff, Part V, section 114. Deactivation Avoidable Cost Rate:

  • Maximum residual disinfectant level or “MRDL” means a level of a disinfectant added for water treatment that may not be exceeded at the consumer’s tap without an unacceptable possibility of adverse health effects.

  • Low-level radioactive waste or “waste” means radioactive material that consists of or contains class A, B, or C radioactive waste as defined by 10 C.F.R. 61.55, as in effect on January 26, 1983, but does not include waste or material that is any of the following:

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