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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