Maple syrup urine disease definition

Maple syrup urine disease means a congenital disorder of branched chain amino acid metabolism due to defective branched chain-keto acid dehydrogenase activity.
Sample 1Sample 2Sample 3
Maple syrup urine disease means an inherited error in the metabolism of leucine, isoleucine, and valine.
Sample 1Sample 2Sample 3
Maple syrup urine disease. (MSUD) means deficiency of enzymes necessary to breakdown the branch chained amino acids leucine, isoleucine, and valine resulting in a buildup of these and metabolic intermediates in the blood. If undetected and untreated may result in mental and physical retardation or death.
Sample 1Sample 2Sample 3

Examples of Maple syrup urine disease in a sentence

  • Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

  • United States Army Corps of Eng’rs, 384 F.3d 1163, 1170 (9th Cir.

  • Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a deficiency of the branched chain alpha keto acid dehydrogenase complex which consists of four subunits, E1α, E1ß, E2 and E3.

  • Rather, “[c]laimants also need to demonstrate that the impairment limits a major life activity.” Toyota Motor Mfg., supra, at 690.{¶17} Based upon plaintiff’s testimony, the court finds that he has proven, by a preponderance of the evidence, that his medical condition of spina bifida and related health concerns limited the major life activity of walking.

  • Minimum observation period of three months o Nodular regenerative hyperplasia: Indications similar to end-stage cirrhotic liver disease o Hereditary haemorrhagic telangiectasia o Glycogen storage disease o Primary hyperoxaluria o Ornithine transcarbamylase deficiency o Maple syrup urine disease o Porphyria o Amyloidosis – other * UKELD score less than 49 is required  A variant syndrome in the context of chronic liver disease.

  • Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms.

  • Minimum observation period of three months o Nodular regenerative hyperplasia: Indications similar to end-stage cirrhotic liver disease o Hereditary haemorrhagic telangiectasia o Glycogen storage disease o Primary hyperoxaluria o Ornithine transcarbamylase deficiency o Maple syrup urine disease o Porphyria o Amyloidosis – other * UKELD score less than 49 is required • A variant syndrome in the context of chronic liver disease.

  • The following tests are covered only if they meet the criteria in section A above AND the specified situations: CPT 81205, BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, Maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X): Cover only when the newborn screening test is abnormal and serum amino acids are normal Diagnostic testing for cystic fibrosis (CF) CFTR, cystic fibrosis transmembrane conductance regulator tests.

  • Maple syrup urine disease: mutation analysis in Turkish patients.

  • Maple syrup urine disease (MSUD) in children under 5 years of age.


More Definitions of Maple syrup urine disease

Maple syrup urine disease or “M.S.U.D.” means a congenital metabolic disorder of branch branched chain amino acid metabolism due to defective branched chain α-keto acid dehydrogenase activity which causes mental retardation or death if not treated early in life.
Sample 1Sample 2
Maple syrup urine disease means an inherited error in the metabolism of leucine, isoleucine, and valine. "MCH" (17) "MCH/CSHCS clinics" means clinics affiliated with the children's special health care services program of the division of maternal and child health of the department that provide services to women, children, and children with special health care needs.
Sample 1
Maple syrup urine disease or "M.S.U.D." means a congenital metabolic disorder of branch chain amino acid metabolism which causes mental retardation or death if not treated early in life.
Sample 1

Related to Maple syrup urine disease

  • 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.

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

  • Flexible vinyl adhesive means an aerosol adhesive designed to bond flexible vinyl to substrates. Flexible vinyl means a nonrigid polyvinyl chloride plastic with at least five percent, by weight, of plasticizer content. A plasticizer is a material, such as a high boiling point organic solvent, that is incorporated into a vinyl to increase its flexibility, workability, or distensibility, and may be determined using ASTM Method E260-91 or from product formulation data.

  • Mist spray adhesive means any aerosol which is not a special purpose spray adhesive and which delivers a particle or mist spray, resulting in the formation of fine, discrete particles that yield a generally uniform and smooth application of adhesive to the substrate.

  • sickle cell disease means a hemolytic disorder characterized by chronic anemia, painful events, and various complications due to associated tissue and organ damage; "hemolytic" refers to the destruction of the cell membrane of red blood cells resulting in the release of hemoglobin.

  • Designated chemical dependency specialist means a person

  • Iatrogenic infertility means an impairment of fertility by surgery, radiation, chemotherapy, or other medical treatment affecting reproductive organs or processes.

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

  • muscular dystrophy means a group of hereditary genetic muscle disease that weakens the muscles that move the human body and persons with multiple dystrophy have incorrect and missing information in their genes, which prevents them from making the proteins they need for healthy muscles. It is characterised by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue;

  • Occupational disease means a disease contracted in the course of employment, which by its causes and the characteristics of its manifestation or the condition of the employment results in a hazard which distinguishes the employment in character from employment generally, and the employment creates a risk of contracting the disease in greater degree and in a different manner from the public in general.

  • Polystyrene foam adhesive means an aerosol adhesive designed to bond polystyrene foam to substrates.

  • Infectious Disease means an illness that is capable of being spread from one individual to another.

  • Chemical dependency means the physiological and psychological addiction to a controlled drug or substance, or to alcohol. Dependence upon tobacco, nicotine, caffeine or eating disorders are not included in this definition.

  • Anti-Static Product means a product that is labeled to eliminate, prevent, or inhibit the accumulation of static electricity. “Anti-Static Product” does not include “Electronic Cleaner,” “Floor Polish or Wax,” “Floor Coating,” and products that meet the definition of “Aerosol Coating Product” or “Architectural Coating.”

  • Substance use disorder means a cluster of cognitive,

  • Therapeutic interchange means an authorized exchange of therapeutic alternate drug products in accordance with a previously established and approved written protocol.