Term
the infant with an inborn error of metabolism has a _ that may not be apparent before birth |
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Definition
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Term
symptoms such as _ must be reported by the nurse to prevent lognterm or life-threatening |
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Definition
lethargy, poor feeding, hypotonia, unique odor to the body or urine, tachypnea and vomiting |
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Term
a genetic disorder caused by the fualty metabolism of phenylalanine |
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Definition
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Term
an amino acid that is essential to life |
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Definition
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Term
classic pku is associated with blood phenlylanine levels above |
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Definition
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Term
in PKU the hepatic enyme _, which is normally needed to convert phenylalanin into _ is missing |
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Definition
phenylalalne hydrolase, tyrosine |
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Term
classic PKU results in _ that is evidenced during infancy |
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Definition
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Term
by the time urine tests positive for PKU _ has already occured |
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Definition
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Term
with PKU the infant appears normal at birth but begins to show delayed development at about |
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Definition
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Term
the child with PKU may show evidnece of |
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Definition
failure to thrive, eczema or other skin conditions, or have peronsality disorders |
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Term
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Definition
blonde and blue eyed childred (features result from lack in tyrosine) |
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Term
a necessary component of the pigment melanin |
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Definition
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Term
the most reliable test for pku |
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Definition
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Term
it's recommended that blood for testing pku be obtained after |
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Definition
48 to 72 hrs of life after the ingestion of proteins |
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Term
treatment of pku consists of close |
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Definition
dietary management and frequent eveluation of blood phenylalanine levels |
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Term
the most commonly used phenylalaline free formulas used for infants |
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Definition
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Term
most common phenylalanin substitues for children |
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Definition
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Term
most common phenylalanin substitute for adolescents |
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Definition
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Term
the goal of a phenylalanine free diet is to provide enough essential proteins to support _ while maintaining phenylalanine blood levels between _ |
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Definition
growth and development, 2 and 10 mg/dL |
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Term
a phenylalanine level belwo 2 mg/dL may result in |
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Definition
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Term
infants with pku can be partially _ and supplemented with _ |
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Definition
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Term
phenyl-free is introduced between ages |
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Definition
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Term
first drug on the market to treat pku and is designed to break down excess phyenylalanin in the blood |
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Definition
sapropterin dihydrochoride |
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Term
dissolved in juice and administered by mouth to treat pku |
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Definition
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Term
phenylalanin levels greater than _ in pregnant women can afffect development of the embryo |
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Definition
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Term
caused by a defect in the metabolism of branched0chain aminot acids |
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Definition
maple syrup urine disease |
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Term
maple syrup urine disease causes marked serum elevations of |
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Definition
leucine, isolucine, valine |
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Term
maple syrup urine disease results in |
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Definition
acidosis, cerbral degeneration and death within 2 wks if left untreated |
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Term
infant with maple syrup urine disease appears healthy at birth but soon develops |
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Definition
feeding difficulties, loss of the moro reflex, hypotonia, irregular respirations and convulsions |
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Term
in MSU diseases the infants _ have a characteristically sweet odor |
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Definition
urine, sweat and cerument |
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Term
the body is unable to use the carobohydrates glactose and lactose |
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Definition
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Term
high levels of galactose in the blood and the urine can cause _ if left untreated |
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Definition
cirrhosis of th eliver, cataracts, intellectual impariment |
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Term
the symptoms of galactosemia begin |
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Definition
abruptly and worsen gradually |
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Term
early signs of galactosemia |
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Definition
lethargy, vomiting, hypotonia, diarrehea and failure to thrive |
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Term
_ products are elimnated from the diet of the pateint with glactosemia |
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Definition
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Term
in the infant with galactosemia the nursing mother must discontinue |
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Definition
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Term
one of the most chromosomal abnromalities |
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Definition
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Term
three pneotypes of downsydrome |
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Definition
trisomy 21, mosaicism, translocatin of a chromosome |
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Term
most common type of down syndrome |
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Definition
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Term
in this instance there are three number 21 chromosomes rather than the normal two |
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Definition
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Term
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Definition
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Term
failure of a chormosome to follow the normal separatoin process into daughter cells |
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Definition
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Term
when nondisjuction occurs late in dvelopment, both normal and abnormal cells are present in the newborn |
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Definition
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Term
in mosaicism patients tend to be less severly affected in |
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Definition
physical appearance and intelligence |
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Term
a piece of chromosmoe in pair 21 breaks away and attaches itself to another chromosome |
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Definition
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Term
_ down syndrome has the highs rate of recurrence ina future pregnancy |
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Definition
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Term
a quad test for down syndrome involves testing of the blood for levels of |
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Definition
AFP, unconjugated, estriol, inhibin- A, human chorionic gonadotropin |
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Term
a low _ or high _ and inhibin-A with a low _ may indicate a high risk for down syndrome in the developing fetus |
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Definition
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Term
a test of _ may also indicate a risk for down syndrome |
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Definition
prgnancy associated plasma protein A |
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Term
positive tests in the first or seond trimester may indicate the need for _ to confirm the diagnosis |
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Definition
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Term
the signs of down syndrome apparent at birth |
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Definition
close set and upward slanting eeys, small head, round face, flat nows, protruding tongue that interferes with sucking and mouth breathing |
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Term
deep straight line acrosse the palm seen in down syndrome |
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Definition
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Term
_ are also associtated with down syndrome |
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Definition
congenital heart deformities |
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Term
limp flaccid posture seen in down syndrom is caused by |
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Definition
hypotonicity of the muscles |
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Term
hypotonicity of muscles seen in down syndrom also causes |
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Definition
resp problems and excess mucus accumulation |
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