There are two genetic diseases among them : Hirschsprung's disease and Maple syrup urine disease.
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Newborn screening for maple syrup urine disease involves analyzing the blood of 1-2 day-old newborns through tandem mass spectrometry.
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Most states also test for two to four additional diseases, from cystic fibrosis to " maple syrup urine disease ."
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Opisthotonus in the neonate may be a symptom of meningitis, tetanus, severe kernicterus, or the rare Maple syrup urine disease.
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The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
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_Maple syrup urine disease, a lethal, retardation-causing metabolic error known technically as branched-chain ketoaciduria that affects one baby in 250, 000.
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They are for PKU ( phenylketonuria ), congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria and sickle cell anemia.
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In some individuals with the genetic disorder maple syrup urine disease, it is spontaneously produced in their bodies and excreted in their urine, leading to the disease's characteristic smell.
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Treating genetic problems is the mission of the clinic, which has developed effective treatments for such diseases as maple syrup urine disease, a disease that used to be fatal.
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The March of Dimes recommends newborn screening for PKU and hypothyroidism, sickle cell and five more rare diseases : congenital adrenal hyperplasia, biotinidase, homocystinuria, maple syrup urine disease and galactosemia.
an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood Synonyms: branched chain ketoaciduria,
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