Inborn error of metabolism definition

Inborn error of metabolism means a disease caused by an inherited abnormality of the body chemistry of a person that is characterized by deficient metabolism, originating from congenital defects or defects arising shortly after birth, of amino acid, organic acid, carbohydrate, or fat.
Sample 1Sample 2Sample 3
Inborn error of metabolism means a rare, genetically determined biochemical disorder in which a
Sample 1Sample 2Sample 3

Examples of Inborn error of metabolism in a sentence

  • Inborn error of metabolism; special modified low-protein food product.

  • Inborn error of metabolism means a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathogenic consequences at birth or later in life.

  • Inborn error of metabolism – A group of rare genetic disorders that affect how food is metabolized into energy needs for the body.

  • These tests cover a variety of disease/disorders such as movement disorders, motor neuron disease and Inborn error of metabolism among others.

  • Inborn error of metabolism requiring IV therapy (BG < 30 at least twice within 12 hour period); orb.

  • Inborn error of metabolism; metabolic disorderA rare inherited condition present at birth, which if untreated results in cognitive impairment, system damage or death.

  • Inborn error of metabolism: These diseases are rare and are diagnosed with special tests, including those conducted through the Virginia Newborn Screening Services program.

Related to Inborn error of metabolism

  • COVID-19 symptoms means fever of 100.4 degrees Fahrenheit or higher, chills, cough, shortness of breath or difficulty breathing, fatigue, muscle or body aches, headache, new loss of taste or smell, sore throat, congestion or runny nose, nausea or vomiting, or diarrhea, unless a licensed health care professional determines the person’s symptoms were caused by a known condition other than COVID-19.

  • Step therapy protocol means a protocol or program that establishes the specific

  • Fluoroscopic imaging assembly means a subsystem in which X-ray photons produce a visual image. It includes the image receptor(s) such as the image intensifier and spot-film device, electrical interlocks, if any, and structural material providing linkage between the image receptor and diagnostic source assembly.

  • Antimicrobial hand or body cleaner or soap means a cleaner or soap which is designed to reduce the level of microorganisms on the skin through germicidal activity, and is regulated as an over-the-counter drug by the U.S. Food and Drug Administration. “Antimicrobial Hand or Body Cleaner or Soap” includes, but is not limited to, (A) antimicrobial hand or body washes/cleaners, (B) foodhandler hand washes, (C) healthcare personnel hand washes, (D) pre-operative skin preparations and (E) surgical scrubs. “Antimicrobial Hand or Body Cleaner or Soap” does not include prescription drug products, antiperspirants, “Astringent/Toner,” deodorant, “Facial Cleaner or Soap,” “General-use Hand or Body Cleaner or Soap,” “Hand Dishwashing Detergent” (including antimicrobial), “Heavy-duty Hand Cleaner or Soap,” “Medicated Astringent/Medicated Toner,” and “Rubbing Alcohol.”

  • HEPA filter means a high efficiency particulate absolute air filter capable of trapping and retaining 99.97 percent of fibers greater than 0.3 micrometers in mass median aerodynamic diameter equivalent.

  • Disinfection profile means a summary of Giardia lamblia inactivation through the treatment plant.

  • Diagnostic clinical procedures manual means a collection of written procedures that describes each method (and other instructions and precautions) by which the licensee performs diagnostic clinical procedures; where each diagnostic clinical procedure has been approved by the authorized user and includes the radiopharmaceutical, dosage, and route of administration.

  • Biological Samples means any physical samples obtained from Study Participants in accordance with the Protocol for the purposes of the Study.

  • Biological agent shall mean any pathogenic (disease producing) micro-organism(s) and/or biologically produced toxin(s) (including genetically modified organisms and chemically synthesized toxins) which cause illness and/or death in humans, animals or plants.

  • Collaborative drug therapy management means participation by an authorized pharmacist and a physician in the management of drug therapy pursuant to a written community practice protocol or a written hospital practice protocol.

  • Controlled substance analog means a substance the chemical structure of which is substantially

  • Antipsychotic medications means that class of drugs

  • Infection means the entry and development or multiplication of an infectious agent in the body of humans and animals that may constitute a public health risk;

  • Congenital Anomaly means a condition which is present since birth, and which is abnormal with reference to form, structure or position.

  • Clinical nurse specialist means a registered nurse with relevant post-basic qualifications and 12 months’ experience working in the clinical area of his/her specified post-basic qualification, or a minimum of four years’ post-basic registration experience, including three years’ experience in the relevant specialist field and who satisfies the local criteria.

  • pseudonymisation means the processing of personal data in such a manner that the personal data can no longer be attributed to a specific data subject without the use of additional information, provided that such additional information is kept separately and is subject to technical and organisational measures to ensure that the personal data are not attributed to an identified or identifiable natural person;

  • Substance abuse means the consumption or use of any substance for purposes other than for the treatment of sickness or injury as prescribed or administered by a person duly authorized by law to treat sick and injured human beings.

  • Acute toxicity means concurrent and delayed adverse effects that result from an acute exposure and occur within any short observation period, which begins when the exposure begins, may extend beyond the exposure period, and usually does not constitute a substantial portion of the life span of the organism.

  • Slow sand filtration means a process involving passage of raw water through a bed of sand at low velocity (generally less than 0.4 meters per hour) resulting in substantial particulate removal by physical and biological mechanisms.

  • Diatomaceous earth filtration means a process resulting in substantial particulate removal in which a precoat cake of diatomaceous earth filter media is deposited on a support membrane (septum), and while the water is filtered by passing through the cake on the septum, additional filter media known as body feed is continuously added to the feed water to maintain the permeability of the filter cake.

  • Adverse drug reaction means any undesirable or unexpected medication related event that requires discontinuing a medication or modifying the dose, requires or prolongs hospitalization, results in disability, requires supportive treatment, is life-threatening or results in death, results in congenital anomalies, or occurs following vaccination.

  • Cannabinoid edible means food or potable liquid into which a cannabinoid concentrate, cannabinoid extract or dried marijuana leaves or flowers have been incorporated.

  • Impulsive sound means either a single pressure peak or a single burst (multiple pressure peaks) that has a duration of less than one second.

  • Immunization means the act of inducing antibody formation, thus leading to immunity.

  • Drug Substance means an active ingredient that is intended to furnish pharmacological activity or other direct effect in the diagnosis, cure, mitigation, treatment, or prevention of disease or to affect the structure or any function of the human body, but does not include intermediates used in the synthesis of such ingredient.

  • Analytical x-ray system means a group of components utilizing x-rays to determine the elemental composition or to examine the microstructure of materials.