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.
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Maple syrup urine disease means an inherited error in the metabolism of leucine, isoleucine, and valine.
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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.
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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.
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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.
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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.
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