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42 Cards in this Set
- Front
- Back
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PKU enzyme def |
Phenylalanine hydroxylase |
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Homocystinemia/homoystinuria enzyme def |
Cystathionine synthase (most common) Def in methyltetrahydrofolate reductase or methylcobalamin formation |
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MSUD enzyme def |
Ketoacid dehydrogenase |
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Hartnup's dz deficiency |
Na-dep AA transport system in renal tubules and intestines |
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PKU accumulation product |
Phenylalanine can't be converted to tyrosine |
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Homocystinemia accumulation product |
Homocystine, methionine |
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MSUD accumulation product |
isoleucine, leucine, valine (I Love Vermont Maple Syrup) |
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Hartnup's disease AA deficiency causing Sx |
Tryptophan deficiency |
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MR child w/ fair hair & skin, blue eyes, mousy/musty odor |
PKU Phenylalanine inhibits tyrosinase |
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FTT, progressive dev delay / MR, Marfan-like body habits, ectopia lentis (subluxation of lens), osteoporosis, vaso-occlusive dz |
Homocystenemia |
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Homocystenemia tx |
High dose Vit B6 (may also need folic acid), cysteine supplementation Restrict methionine intake |
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Poor feeding, vomiting in first week of life --> lethargy, convulsions, alternating flaccidity & hypertonicity, coma |
MSUD |
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Cutaneous photosensitivity, psych changes, increased AA in urine |
Hartnup's dz |
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Dz with cherry red spot on macula |
GM1 & GM2 gangliosidoses (GM2 = Tay-Sachs (no HSM, +hyperreflexia) or Sandhoff (HSM)); Niemann-Pick (HSM, areflexia) |
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Tay-Sachs vs Sandhoff dz |
Tay-Sachs = GM2 ganglioside in brain, but not peripheral organs (Sandhoff). Sandhoff has HSM. |
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Bone fractures, cells w/ "crinkled paper" cytoplasm, pancytopenia |
Gaucher's |
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Neuropathic limb pain, ASymm corneal deposits, progessive kidney failure, cardiac involvement |
Fabry's |
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Fabry's def |
Ceramide trihexosidase or a-gal A = accumulation of glycosphingolipis in vascular endothelium, nerves & organs |
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Gaucher's def |
B-glucosidase |
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Niemann-Pick def |
Sphingomyelinase |
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Sandhoff dz def |
B subunit of Hexoseamindiase A+B |
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GM1 gangliosidoses def |
B-galactosidase |
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Blind, deaf + cherry red spot |
GM1 gangliosidoses |
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Frog-like position, hyperacusis, cherry red spot |
Tay-Sachs (no HSM) or Sandhoff (+HSM) |
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Cherry red spot, HSM, jaundice, areflexia, death by 3 years |
Niemann-Pick |
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CNS degeneration, optic atrophy, globoid cells in areas of demyelination |
Krabbe's - Tx w/ BM Tx prior to CNS Sx |
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Granulomas on joints, vocal cords, MR |
Farber's dz - ceramidase def. Granulomas = accumulation of ceramide |
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Gaucher's dz tx |
Recombinent enzyme |
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Tay Sachs def |
a subunit of Hexoseaminidase A |
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X-linked R metabolic dz |
Fabry's Hunter's MPS I |
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Progressive physical & mental degen, corneal clouding, stiff joints, organomegaly, skeletal abnl, coarse features |
MPS - Hurler's (death by age 10) & Hunter's (death by 15)
Scheie's = milder form of Hurler's, nl IQ & life span |
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Hurler's Tx |
BMtx |
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Fasting hypoglycemia, hepatomegaly, incr cholesterol, TGs
Renal comp (Fanconi's, FSGS, kidney stones)
Tx? |
G6P def = von gierke's dz (glycogen met def)
Tx: High CHO meals (cornstarch), avoid fasting to maintain euglycemia. Bicarb or K+ citrate for lactic acidosis. Liver tx |
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Weakness & cramping of skeletal muscle during exercise, followed by "2nd wind". Presents in late childhood/teenagers. Myoglobinuria, incr CK at rest
Tx? |
McArdle's - glycogen met disorder (muscle glycogen phosphorylase def) w/ deposition in skeletal muscle.
Tx: High fat/protein diet, sucrose before exercise |
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Cardiomegaly, hypotonia, hepatomegaly, death by age 1-2. Deposition of glycogen in skeletal muscle + cardiac m.
Tx? |
Pompe's - acid a-1,4 glucosidase def. Also have juvenile form w/ less cardiac abnl (death 2/2 resp failure)
Tx: recombinant a-glucosidase delays progression |
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Cataracts, HSM, jaundice, MR, E. coli sepsis
Reducing substance in urine |
Galactosemia - should be picked up on newborn screen |
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Urinary-reducing substrates w/o Sx in kid who just started eating fruit |
Fructosuria |
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MR, spastic CP, self-injurious behavior, Ca stones, gouty arthritis
Tx |
Lesch-Nyhan - HGPRT def = purine deposition in tissues
Allopurinol to decr serum uric acid levels |
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Serum cholesterol > 500, tendinous xanthomata - deficiency? |
LDL R
Familial hyperlipidemia |
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Low / nl LDL, chylomicron accumulation, serum grossly milky, serve abd pain / pancreatitis - deficiency? |
Lipoprotein lipase / apolipoprotein C-II cofactor |
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No CMs, abnl VLDL & LDL, incr cholesterol, TGs plantar xanthomata, PVD - deficiency? |
Abnl apolipoprotein E |
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Incr VLDL, obesity, insulin resistance - cause? |
Overproduction or reduced clearance of VLDL |
