communities. Learn more. Normally, our bodies break down protein foods such as … MedlinePlus also links to health information from non-government Web sites. maple syrup urine disease a genetic disorder involving deficiency of an enzyme necessary in the metabolism of branched-chain amino acids, marked clinically by mental and physical retardation, feeding difficulties, and a characteristic odor of the urine. In cold climates, these trees store starch in their trunks and roots before winter; the starch is then converted to sugar that rises in the sap in late winter and early spring. n. 1. Common use To assist in diagnosing congenital metabolic disorders in infants, typically homocystinuria, maple syrup urine disease, phenylketonuria (PKU), tyrosinuria, and unexplained mental retardation. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in … There is a way to enable word translation from any page: Bookmarklets. The most common way is by word input (you must know which language the word is in) but you can also use your browser's search box and bookmarklets (or favelets). 2014 Sep 15;23(R1):R1-8. Some of the words may be incorrectly translated or mistyped. Epub 2014 Mar 20. Review. Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. Hum Mutat. What is the prognosis of a genetic condition? It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. Translation Find a translation for Maple Syrup Urine Disease in other languages: Laurence Reiff is one of 11 children. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. maple syrup definition: 1. a thick, sweet liquid produced from the maple tree, eaten with or used in making food: 2. a…. And we offer leading standards of care, novel rare disease therapies, and pioneering protocols in a world-class setting. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. These amino acids and their toxic byproducts build up in the blood and urine, resulting in symptoms such as lethargy, poor appetite, seizures, and vomiting. Available from In maple syrup urine disease, the three branched-chain amino acids (leucine, isoleucine, and valine) cannot be metabolized (processed), and they build up in the blood, causing problems with brain function and … The disorder affects people in a way that their bodies are unable to break down particular portions of proteins. dinitrophenylhydrazine test: a screening test for maple syrup urine disease; the addition of 2,4-dinitrophenylhydrazine in HCl to urine gives a chalky white precipitate in the presence of ketoacids. J Inherit Metab Dis. For the same reason the Chinese dictionary contains traditional and simplified Chinese terms on one side and Pinyin and English terms on the other. 10.1002/humu.22242. Maple syrup urine disease is a genetic disorder where a person cannot process certain proteins. 9 Maple Syrup Urine Disease. I do this in my spare time. Dehydration makes urine stronger, which can result in an increase in odor. 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