Citrullinemia definition

Citrullinemia means a congenital disorder characterized by an inability to convert the amino acid citrulline and aspartic acid into argininosuccinic acid due to defective argininosuccinate synthetase activity.

Examples of Citrullinemia in a sentence

  • Amino acidemias GeneralBesides Hyperphenylalaninemia/Phenylketonuria a range of other amino acidemias are screened for using ms/ms technology, such as Argeninemia, Argininosuccinic aciduria, Citrullinemia, type I and type II, Homocystinuria, Hypermethioniemias type I, III, Maple syrup urine disease and Tyrosinemias type I-III.

  • Citrullinemia is caused by a deficiency of argininosuccinic acid synthetase enzyme and results in elevated plasma citrulline and ammonia levels.

  • Arginase deficiency (ARG); (B) Argininosuccinate lyase deficiency (ASA); and (C) Citrullinemia, Type I (CIT I).

  • It is recommended that assessment is done locally at the institutions with the use of external industry assessors and the teacher responsible for the training.

  • Difference between the actual results and estimates are recognized in the period in which the results are knownƒmaterialized.

  • Citrullinemia type I: molecular screening of the ASS1 gene by exonic …198 sequencing and targeted mutation analysis CONCLUSION …206 APPENDIX Permission to use third party copyright material …218 BIBLIOGRAPHY …220 INTRODUCTION A Matryoshka is a Russian nesting doll, a set of carved wooden dolls of decreasing size that are placed one inside the other.

Related to Citrullinemia

  • thalassemia means a group of inherited disorders characterised by reduced or absent amounts of haemoglobin.

  • Dyslexia means a disorder of constitutional origin manifested by a difficulty in learning to read, write, or spell, despite conventional instruction, adequate intelligence, and sociocultural opportunity.

  • 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.

  • 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.

  • Cannabinoid extract means a substance obtained by separating cannabinoids from marijuana by:

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

  • coronavirus means severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2);

  • Flashpoint means the minimum temperature at which a liquid gives off a vapor in sufficient concentration to ignite when tested as follows:

  • 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;

  • glider means a non-power-driven heavier-than-air aircraft, deriving its lift in flight chiefly from aerodynamic reactions on surfaces, which remain fixed under given conditions of flight;

  • Fat wood means pieces of wood kindling with high naturally-occurring levels of sap or resin which enhance ignition of the kindling. “Fat wood” does not include any kindling with substances added to enhance flammability, such as wax-covered or wax-impregnated wood-based products.

  • Physiotherapist means a health care professional who is registered in the part of the register maintained by the Health Professions Council under article 5 of the Health and Social Work Professions Order 2001 (establishment and maintenance of register) relating to physiotherapists and:

  • Magnesite cement coating means a coating labeled and formulated for application to magnesite cement decking to protect the magnesite cement substrate from erosion by water.

  • Gasohol means a blended fuel composed of gasoline and fuel grade ethanol.

  • cannabis resin means the separated resin, whether crude or purified, obtained from any plant of the genus Cannabis;

  • Nematode means invertebrate animals of the phylum nemathelminthes, and class nematoda, i.e., unsegmented round worms with elongated, fusiform, or saclike bodies covered with cuticle, and inhabiting soil, water, plants, or plant parts, may also be called nemas or eelworms.

  • haemophilia means an inheritable disease, usually affecting only male but transmitted by women to their male children, characterised by loss or impairment of the normal clotting ability of blood so that a minor would may result in fatal bleeding;

  • Cider means any alcoholic beverage obtained by the

  • Opioid means a drug that produces an agonist effect on opioid receptors and is indicated or used for the treatment of pain.

  • Brachytherapy means a method of radiation therapy in which sealed sources are utilized to deliver a radiation dose at a distance of up to a few centimeters, by surface, intracavitary, or interstitial application.

  • Cancer means the presence of one or more malignant tumours including Hodgkin’s disease, leukaemia and other malignant bone marrow disorders, and characterised by the uncontrolled growth and spread of malignant cells and the invasion and destruction of normal tissue, but does not include the following:

  • FAT means total lipids, and includes phospholipids;

  • Tetrahydrocannabinol means the natural or synthetic equivalents of the substances contained in the plant, or in the resinous extractives of, Cannabis sativa, or any synthetic substances, compounds, salts, or derivatives of the plant or chemicals and their isomers with similar chemical structure and pharmacological activity.

  • Septage means the liquid and solid material pumped from a septic tank, cesspool, or similar domestic sewage treatment system, or from a holding tank, when the system is cleaned or maintained.

  • Cropland means land used for the production of adapted crops for harvest, alone or in a rotation with grasses and legumes, and includes row crops, small-grain crops, hay crops, nursery crops, orchard crops, and other similar specialty crops.

  • Cannabinoid means any of the chemical compounds that are the active constituents of marijuana.