maple syrup urine disease…

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msud, maple syrup urine disease, inherited disease of amino acid metabolism that causes, acidosis, central nervous system symptoms, urine, smell sweet, maple syrup, maple syrup urine disease, msud, inability to metabolize the branched-chain amino acids leucine, isoleucine, valine, disease, msud, urine from affected people smells, maple syrup, most severe form, msud causes, severe acidosis, first week of life, characterized by progressively poorer feeding, vomiting, seizures, lethargy, finally coma, untreated infants, die, in the first few weeks of life in severe forms, msud also occurs in an intermittent form, a mild form, mildest form, infections, cause mental retardation, bouts of acidosis, family history of msud, unexplained infant death, urine that smells, maple syrup, feeding difficulties, lethargy, vomiting, seizures, coma, avoiding food, urine amino acids, elevated levels, the amino acids leucine, isoleucine, valine, plasma amino acids, elevated levels of leucine, isoleucine, valine, ketosis, elevated levels of ketone bodies in urine, plasma, acidosis, excess acid in blood, the acute episode, acute acidosis is treated, restore normal ph, protein intolerance disease, protein is cut, diet, high doses of intravenous fluid, sugar, fat, prevent dehydration, provide energy to stimulate protein synthesis, lowers the levels, the amino acids that cannot be broken, peritoneal dialysis, hemodialysis, remove the high levels of amino acids, a special diet free of branched-chain amino acids is started, long range treatment, a special diet, strict compliance is necessary, prevent neurological damage, close supervision by a registered dietitian, a physician, parental cooperation, diet includes a synthetic infant formula, low levels, the amino acids leucine, isoleucine, valine, frequent blood testing, amino acid levels allows doctors, dieticians to adjust the balance of these branched-chain amino acids so that they, neither deficient nor in excess, people must remain on this diet permanently, left untreated, life-threatening neurological damage, dietary treatment, stressful situations, illness, still cause bouts of acidosis, death, episodes, strict dietary treatment, children have grown into healthy adulthood, neurological damage low iq, poorly treated, possibly fatal acidosis episodes, family history of msud, planning to start a family, newborn who exhibits symptoms suggestive of maple syrup urine disease, genetic counseling is suggested, prospective parents, a family history of maple syrup urine disease, states, pennsylvania, screen all newborns, signs of msud, receive a call from pediatrician stating that baby has an abnormal blood test result, msud, a follow-up blood test, amino acid levels, done right away to find out, baby does have the disease.