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 (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.

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

  • Maple syrup urine disease (MSUD) Isovaleric acidaemia, (IVA) Glutaric aciduria type 1 (GA1) Homocystinuria (HCU)These four rare recessively inherited metabolic conditions were added to the newborn blood spot screening programme for babies born on or after 20th March, 2017.

  • A zoning certificate shall be either issued or refused by the Zoning Administrator within ten (10) days after the receipt of an application or within such additional period as may be agreed to by the applicant.

  • Aims During the last years, several authors have shown that tandem mass spectrometry (MS/MS), which is by far the most fre- quently used method in German NBS laboratories, is Glutaric aciduria 1: 147,515 Maple syrup urine disease None in 2015 Carnitine palmitoyltransferase I (CPT I) deficiency None in 2015 Carnitine palmitoyltransferase II (CPT II) deficiency None in 2015 Carnitine acylcarnitine translocase (CACT) deficiency None in 2015 Please note that the CF program started on 1 September 2016.

  • Maple syrup urine disease- treatment and outcome in patients of Turkish descent in Germany.

  • Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.

  • Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.

  • Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.

  • Maple syrup urine disease is a disorder of branch chain amino acid metabolism.


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 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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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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