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12 Cards in this Set
- Front
- Back
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genetic disorder that is treated w a special diet
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galactosemia
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if found in maternal serum it indicates Downs Synd
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low alpha feto protein
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what substance do you measure to determine tyrosinemia type I
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succinyl acetone
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the percentage of pt w genetic defect BRCA1 that develop breast cancer
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5%
high incidence in ashkenazi jew |
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in the article "burden of knowledge" which diseases or conditions led to the termination of the pregnancy
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klinefelter
cornelia de lange extra digit downs synd male sex |
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AD
test: MS/MS tx w restriction and tyrosine supp tx.KUVAN: a BH4 essential cofactor for PH enzyme |
PKU
tx. phenylalanine restriction deficiency in phenylalanine hydroxylase |
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ARes
presents 2 wk after birth: jaundice, hepatomegaly, poor feeding. Accumulation of this subs. can damage brain, liver, kidney, rapidly fatal. tx- feed w soy formular |
galactosemia
it starts after milk feedings complete deficiency if GALT galactose 1 phosphate uridyl transferase |
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european
relatively well child w lethargy and encephalopathy at times of CH fasting - can evolve to hyperammonemia and MetAci-> brain damage DX. Mass spectrophotometry Tx avoid fasting, avoid Med-Long chain FA intake |
MCADD
med.chain,acylcoA.dehydrogenase def. - fatty acid b oxidation disorder - cant break FA of med chain |
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family disorder, ARes
female looks, masculine ext genitaia and gonads are normal w/o tx: rapid growth, precocious puberty, short stature, if severe salt wasting path: CYP21 mutation test: 17 hydroxyprogesterone is elevated bc it cant be converted to cortisol-> ACTH inc-> |
21 hydroxylase deficiency
congenital adrenal hyperplasia |
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Ares
NY implemented testing in 2007 it is caused by a def FAH. marker is succinyl acetone inc. toxic to liver. fail to thrive tx? |
tyrosinemia type1
tx low tyrosine low phenylalanine diet you can add NTBC it prevents the formation of fumaryl acetoacetate from tyrosine |
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ARes
p.w seizures, hypotonia, development delay, later skin lesions, neuro anomalies, immunodef. |
Biotinidase def.
biotin ir needed for the ATP dependent carbosylases that transport and activate CO2 biotinidase recycles biotin in the degradation of carboxylases and liberation of protein bound biotin in digestion. |
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Ares
one of the most common dis in NoEuropean whites 3 base pair deletion (a508) 70% newborn screen? carrier status? |
Cystic fibrosis
CFTR protein is mutant ImmunoRx Trypsin in blood (02) carries state for prospective parents |
