• Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

Card Range To Study

through

image

Play button

image

Play button

image

Progress

1/100

Click to flip

Use LEFT and RIGHT arrow keys to navigate between flashcards;

Use UP and DOWN arrow keys to flip the card;

H to show hint;

A reads text to speech;

100 Cards in this Set

  • Front
  • Back
how to memorize autosomal dominants
ADOMINANT
A-ADPKD
D-dystrophic myotonia
O-osteogenesis imperfecta/osler
M-marfans
I-intermitten porphyria
N-NF
A-Achondroplasia, adenomatous polypsoisis familial
N-?
T-tuberous sclerosis
6 H's
Hypercholesterolemia, huntingtons, hypertrophic obstructive cardiomyopathy, hered SM, hered non polypsosi coli, hereditary hemorragic telangictasia
vWD, VHL, PHPTH
achondroplasia
AD, mutation in FGF Rc gene; increase w/ paternal age
imparired proliferation of cartilage at growth plate
normal head and spine; short legs/arms; normal GH and IGF-1
no treatment
ADPKD
AD polycystic kidney disease
adult, always bilateral, massive enlargement of kidneys due to multiple large cysts
flank pain, hematuria, HTN, porgressive RF, 90% of cases due to mutation in chrom 16
berry aneurysms, MVP
infantile form is recessive
CYSTS NOT PRESENT AT BIRTH
around 20-25
cysts can also be in liver, spleen, pancreas
hypertension, IC hemorrage,
eventually renal failure
small risk RCC, sigmoid diverticular disease
16 letters in polycystic kidney
familial adenomatous polypsos
AD colon becomes colvered w/ polyps after puberty-->progress to colon cancer unless reseted
deletion of chrom 5 APC gene; 100% complete penetrance; 35 y/o
(5 letters in poly)
familal hypercholesterolemia
AD hyperlididemia type 2a
elevated LDL due to defective or absent LDL recptor
cholesterol=300 heterozygotes; homozygotes have high cholesterol 700_
severe atherosclerotic disease early in life and TENDON XANTHOMAS in achilles tendon, xanthelasmas on the eyelid
MI before age 20

***def in LDL receptors
hereditary hemorrhagic telenagictasia
AD osler weber rendu syndrome; inherited disorder of blood vessels
telangietasia, recurrent epistxis skin discolorations, AV malformations

dilated vessels especially in GI TRACT!
chronic iron def anemia
hereditary spherocytosis
AD spheroid erythrocytes due to spectrin or ankyrin defect
hemolytic anemia
inc MCHC;
splenectomy is curative
intrinsic defect; extracellular hemolysis-->loss of membrane to spherocyte
inc permeability of spherocytes to sodium due to dysfunctional Na/K pump-->inc osmotic fragility rupture in hypotonic salt solutions
jaundice inc UCB (indirect), inc Ca bilirubinate gallstones b/c in CB in bile, SM, aplastic crisis in children esp after viral infection (parvo)
huntington's disease
AD
depression, progressive dementia, choreiform movemnts caudate atrophy, ocululomoter abnormalities, parkinson's later, dec levels of GABA and ACh; 20-50 y/o; gene on chrom 4
tirnucleotide repeat disorder CAG
hunting 4 food
marfan's syndrome
AD--weak elastic tissue fibrillin MISSENSE MUTATION, CV abnormalities---dilating of ascending aorta-->aortic dissection or aortic regurg, MVP (sudden death), hypermotile joints, eunichoid proportions, arachnodachtyly, dilocation of lens (suspensatory lens is elastic), pectus excavatum (hallow chest ant), cystic medial encrosis of aorta
MEN syndrome
AD, 1, 2A, 2B familal tumors of endocrine glands; 2A/2B ret gene
Type I has three Ps which are Parathyroid, Pancreas, and Pituitary
Type IIa has two Ps which are Parathyroid, and Pheochromocytoma, medullary
Type 2B has One P which is Pheochromocytoma. medullary , mucosal neuromas
neurofibromatosis
NF1/2 AD
cafe au lai spots, enural tumors, lisch nodules (pigmented irin hamrtomas), sk disorders scoliosis, optic pathway gliomas; chrom 17 (17 letters in von recklinhausen's)

2: b/l acoustic schwannomas, juvenile cataracts. NF2 on chrom 22, type 2=22
tuberous sclerosis
AD
facial lesions adenoma sebaceum, hypopigmented ash leaf spots on skin, cotical and retinal hamartomas, seizure, MENTAL RETARDATION, SEIZURES, rhabdomyomas of heart, astrocyte on vetricles "candle wax", renal cysts and renal angiomylipomas, cardiac rhabdomyomas; inc incidence of astrocytomas
incomplete penetrance
von HIppel-Lindau disease
AD
hemangioblastomas of retina/cb/medula; mutiple b/l RCC, pheochromocytoma BILATERAL
VHL gene deletion on chrom 3p
constitutive expressiove of HIF transcription factor of angiogneic GF
VHL 3 words=chrom 3
autosomal recessive diseas
ABCDEFGHH
A-albinism, ARPKD
B-?
C-cystic fibrosis
D-deaf
E-emphysema
F-freidricks ataxia (3)
G-gauchers, galatosemia, glycogen storage diseases
H--hemociderosis, hartnup, homocytinuria, hemochromatosis
Mucopolysaccaridosies?
PKU, sickle cell, spongolipidoses, THALASSEMIAS
von gierke's, mcardles????
wilson's
cystic fiborosis
AR defect in CFTR on chrom 7; Phe 508 deletion
CFR channel actiely secrete Cl in lungs and GI tract and actvely reabsorbs cl from sweat (degraded by golgi). defective Cl channel-->secretion of abnormally thick mucus that plus glungs, pancreas, and liver-->recurrent pulm infections esp PSEUDOMONAS AND STAPH AUREAU AND HI, chronic bronchitis, MCC in US of BRONCHIECTASIS, pancreatic insuff (malabsorp and steatorrhea), meconium ileus in newborns
mt causes abnl protein folding -->degrade channel before reaching cell surface
heat exaustion, nasal polyps, infertility in males (b/l absense of vas deferens), fat soluble vit def (ADEK), failure to thrive in infancy
MC lethal gentic disease of whites
inc cl ions in sweat test is diagnosis
treat: N-acetylcystein to loosen mucous plus (cleaves disulfide obnes w/oin mucous glycoprotiens)
T1DM, rectal prolapse, gall stones
x-linked recessive disorders
Be Wise Fool's GOLD Heeds silly Hope
Bruton's agammaglob, Wiskott's, Fabry's disease, G6PD def, Ocular albinism, lesch-nyhan syndrome, duchenne's (becker's) muscular dystorphy, hunter's Syndrome, Hemophilia A/B
duchenne's
XR frame shift-->deletion of dystorphin-->mm breakdown; weak at pelivc girdle mm and progresses supreriorly
pseudhypertrophy of calf muscles due to fibrofatty replacement of mm; cardiac myopathy
gower's maneuver; <5 y/o
duchenne's=delted dystorphy; DMD longest known human gene-->inc rate spont mutaiton; dystorphin anchor mm fibers in sk and cardiac mm
dx: CPK inc an dmm biopsy
INCREASE CK-MM (vs an MI increases CK-MB)
becker's
muscular dystorophy, XR
mutated dystrophin, less severe than duchenee's
adolescence
inc CPK and mm biopsy
fragile X syndrome
XR, trinucleoid e repeat ( CGG); mental retardation (eXtra large testes, jaw, ears)
long face large mandile everted ears, macroorchidism (testes) at puberty, MVP, autism
dx: DNA analysis of repeats
FMR1 gene, chromosomal berakage 2nd MC cause of mental retard (Down's #1)
Lesch-Nyhnad
XR; def HGPRF (hpoxanthin guanin phosphoribosytransferase)--salvages purine hypoxanthin and guanin
mental retardation, hyperuricemia, self mutilation, yellow orange sand in diaper, caliculi in kidneys
tirnucleotide repeats
Try hunting for my fried eggs (X)
huntington's CAG, myoTonic dystoprhy CTG, fraGile X syndrome CGG, friedreich's ataxia GAA
gentic anticipation (inc w/ age in successive generating, germline expansion in females)
down's syndrome
maternally transmitted, epicanthic folds, flat facial, macroglossia, simian crease, A/V septal defects (cushion), early childhood, inc risk Hirschprong's disease, duodenal atresai; inc risk leukemia ALL, alzheimers at 40; steriliti all males; maternally transmitted
-toe gap, duodendenal atresia, congenital heart disease
***nondisjunction in meiosis 1 47 chrom; robertsonian tranlocation mosaicism no maternal association 46 chrom; 21 (drinking age) MC chrom disorder, MC cuase of congeital mental retardation; abdunant neck skin, cleft palate,
pregnacy quad screen--dec AFP, inc HCG, dec estriol, inc inhibin A
ultarsound inc nucal tranlucency
edwards syndrom
chrom 18 (election age), MC trisomy
mental retardation, rocker bottom feet, MICROGNATHIA (small jaw), low-set ears, CLENCHED HANDS, prominent occiput, CHD, death w/in 1 year
patau's syndrome
trisomy 13 (pubery)
sever mental retard, rocker-bottom feet, microphthalmia, microcephaly, CLEFT LIP/PALATE, HOLOPROSCENEPHALY (1 eye) cyclops, cystic kidneys, POLYDACTLYL, CHD, death w/in 1 year
cri du chat syndrom
loss of short arm of chrom 5
mental retardation cat like cry, ventricular septal defect
46xx or xy, 5p-
looser joints
williams syndrome
long arm chrom 7
elfin facis, mental retardation, hypercalcemia (seizures inc sn to vit D), well dev verbal skills, friendly w/ strangers, CV problesm (stenosis)
7 letters (chrom 7), no social anxiety, no racial bias, prom lower lip WIDE MOUTH SMILE
22q11 deletion
cleft palate, abnormal facies, thymic aplasia (T cell def), cardia defects, hypocalcemia (secondary to paraythyorid aplasia)
CATCH-22--abserrant dev of 3rd/4th pouches
DIgeourge syndrome-thymid, parathyroid, and cardiac defect
velocardiofacial syndrome--palate, facial and cardiac defects
B12 and folate are stored where?
lliver they are water soluble vitamins
3 common B vitamins abnormalties
dermatitis, glossitis diarrhea
B1
thiamine TPP, berI, berI
pyruvate DH (glycolysis), a-ketoglutarate DH in TCa, transketolaste (HMP shunt), branched-chain AA DH
imparied glucose breakdown-->ATP depletion (glucose infusion can worse), brain and heart are affected first),
wernicke korsakoff --confusion, ophthalmoplegia, ataxia + confabulation, personality change, memory loss (permanent), damge to medial dorsal nucleus of thalmus, mammillary bodies
dry--polyneurtiis, mm wasting
wet berberi--high output cardiac failure (dilated cardiomyopathy), edema
WW cause is rice, alcoholics
B2
riboflavin; FADH2 (FAD, fMN) B2=2ATP
FACE problems (f)
the C's--cheilosis (mouth), corneal vasculatiozation, glossitis, magenta tongue
B3
niacin (NAD); B3=3ATP
tryptophan-->niacin and serotonin
NADP, HAD from tryptophan needs vit B6
glossitis, pellagra (hartnup disease dec trytophan), malignant carcinoid syndrome (inc tryptophan metab) and INH (dec vit B6)
3 D's-diarrhea, dementia, dermatitis (sun exposed Casal's necklace)
excess--facial flush (tx hyperlididemai)
occurs in corn bakced diet
acetyl Coa-->BOHB, malate-->OAA, G6P-->6 phosphogluconate (NADP) in PPP
B5
panththenate; CoA
FA synthase
dermatitis, enteritis, alopecia, adreanl insuff
B6
PLP pyridoxine; microcytic anemia

goat milk, chronic alcohol, isoniazid (TB), OCPs-->sideroblastic anemia inc iron-->convulsions peripheral neurop
alanine-->pyruvate; OAA-->aspartate
ALT/AST, decarbox reactions, glycogen phosphorlyase, cystathione syntehsis, heme synthesis; need niacin
--convulsions, hyperirritability,
vitamin A
VISION fat soluble, antioxidant, visual pigments, biot's spot
2nd MCC blind WW, penomonia, renal caliculi, follicular hypercaratosis, papilladema, seizures
retinol vit A---Retin-A for wrinkles and achne, epithelial cells (pancreatic, mucus sec),
treats measles
def--night blind, dry skin
excess--arthralgias, fatigue, HA, skin , alopecia, teratogenic (cleft palate, cardiac)
vit B12
coblaamin BLOOD AND CNS
comes only from animal produces so dec in vagans, celiac disease, malnut, pernicious anemia; dec gastric acid pepsin, chron's (term ileal absorp), bact overgrowth, fish tape worm, chronic pancreatitis
syn DNA, succinyl coA
vit B12-->R factor in salva-->gastric + r factor-->free B12 +IF-->pacreatic enzymes-->vit B12 in IF-->transcobalmin-->liver
megaloblastic anemia + neuro (LCT), glossitis, pancytopenia, anemia
mm-->succinyl-->heme and gluconeognesis
absorped in terminal ileum
schilling test
homocytein (inc)-->methionin +THF decreases; methymalonyl-coa inc-->succinyl coa decreases
fat soluble vit/describe
A--vision
D-bone cac ca homeostatis
E-antiox
K-clot
folic acid
DNA synthesis, macrocytic anemia, inc homocystein
def: elderly, goat mlik, alcohol (inhib resorp of monoglut), OCPs (inhib absorp of monoglut), MTX (dihydrofolate reductase), 5fu (thymidylate synthase), phenytoin, TMP, overutilization, green veggies and meat
poly--)mon by intest conjugase-->jejunum-->liver
folate from fol-iage
glossitive neural tube defects
S adenosyl methionine
ATP + methionine-->SAM (transfers methy units the methyl donor man)
regen methionine dependent on Vit B12 and folate
required for conversion of NE-->epi
biotin
dermatitis alopecia, LA

propiionyl coa-->methyl malonyl coa

raw eggs (avidin) dec
pyruvate carboxylate=pyruvate-->OAA; actyl coa carboxylate= acetyl coa-->malonyl; propionyl coa carboxylase=propionyl-->methylmalonyl

rare-dermatitis, alopecia, enteitis, caused by antibiotic use or raw eggs
***IT IS A CARBOXYLASE!!!
vit c
ascorbic acid
antioxidant, iron absorb (Fe2+), hydroxyaltion of proline lysine in collagen ysnthesis, dopamine B-hydroxylase dopamine to NE
scurvy--swollen gums, bruise, hemarthrosis, anemia, poor wound healing, weak immune
vit D
rickets, ribs
D2-ergocalciferol plants; D3 cholecalciferol in milk and sun; 25-OHD3=stroage as adipose months
1,25OH2D3 calcitrol=active
inc intestinal absorption of calcium and phosphate inc bone resoption
rickets in children bend bones, osteomalacia in adults; hypocalcemic tetany,
excess--hypercalcemia, hypercalciuria, loss of appetitis, stupor, arcoidosis
vit E
causes: hemolytic anemia, peripheral neurop, ataxia
does-->lipid peroxidaiton, antioxidant (protect membranes fro FRs)
def--fragile RBCs hemolytic anemia, mm weak, post column and spinocerebellar tract demyelination

toxic--dec vit K
E=erythrocytes
vit K
carboxylation of lgutamic acid, blood clot, made in intestinal flora
K=koagulation; 2, 7, 9, 10, C, S
warfarin=vit K antag; neonates give vit k at birth to prevent hemorrage
1-3 weeks storage
neonatal hemorrhage inc PT/PTT normal BT
antibiotics cause
zinc
essential for activity of 100 enzymes; zinc fingers formation (trancritpion factor)

delayed wound healing (cofactor in collagenase), hypogonadism, dec adults hair, dysgeusia, anosmia, alcoholic cirrhosis, perioral rash
children-growth retard, hypogonad
ethanol methanolism
ehtanol-->acetaladehany by alcohol DH +NAD-->acetate by acetaldehyde DH and NAD
NAD is limiting reagent
alcohol DH=zero-oder kinetics
fomepizole inhibts alcohol DH, antidots for methanol/ehtylene glycol poisoning
disulfiram (antabuse) inhib acetaldehydre DH--> hangover

hypoglycemia b/c inc NADH in liver so pyruvate to lactate and OAA to malate inhib gluconeogenesis and stim FA synthesis-->hypoglycemia and heatic fatty change
kinase
uses ATP to add phosphate
phosphatase
removes phophate
phosphylase
adds phosphate w/o ATP
dehydrogenase
oxidizes substrate
carboxylase
biotin; add carbon
RLE of glycolysis
PFK-1
RLE of gluconeogensis
fructose 1,6 bisphosphate
RLE of TCA cycle
isocitrate DH
glycogen synthesis RLE
glycogen syhtase
glycogenolysis RLE
glycogen phosyphorlyase
HMP shunt RLE
G6PD
de nove pyrimidine synthesis RLE
carbomoyl phosphate synthestase 2
denovo purine synthesis RLE
glutamine-PRPP amidotransferase
urea cycle RLE
carbamoyl phophate synthetase 1
FA synthesis RLE
acetyl-coa carboxylase
RA oxidation RLE
carnitine acyltransferase 1
ketogensis RLE
HMG-CoA synthease
Cholesterol synthesis RLE
HMG-COA reductase
chromium
metabolic imparied glucose tolerance, peripheral neuropathy (maintains normal glucose)
coafactor for insulin to bind glucose to adipose and mm
copper
microcytic anemia (ferroxidase cofactor), aortic dissection (weak elastic), poor wound heaing (cofactor lysyl oxidase)
yrosinase melanin synhtesis
fluroide
dental caries
--calcium hydroxypatitie in bone and detth
excess: chalky teeth calcification of ligaments; inc risk bone fractures
iodide
thyroid enlargement (goiter), hypothyroidism
selenium
mm pain and weakness, dilated cardiomyopahty
***also glutathion peroxidase antioxidant neutralizes peroxides H2O2 used reduced glutathione
NAD vs NADP
catabolic and anabolic (steroid and FA syntheiss reducing)
HMP shunt-NADPH
NADPH--anabolic, resp burst, P450, glutathione redutase
arsenic
inhibits lipoic acid in pyruvate dh complex
vominting rice water stools, garlic breath
G6PD
NADPH necessary for glutathione reduced detox FR and peroxides
dec NADPH hemolytic anemia (fava beans, sulfa, primaquine, antitb drugs oxdizing agents)
infections can precipitate
XR disorder MC; inc malaria resitance
HEINZE BODIES--oxidized Hb in RBcs (H-H)
bite cells-removal by macs of Hienz

be wise GOLD has false hope
fructose intolerance
AR, def in aldolase B
fructose 1 phosphate acuumulates hypophosphatemia available; inhib glycogenolysis and gluconeogenesis
--hypoglycemia, jaundice, cirrhosis, vomit
tx: dec intake fructose sucrose
(glucose + frucose)
INCREASE FRUCTOSE 1 PHOSPHATE which is toxic
frucose-->F!P-->Glyceraldehyde and DHAP-->G3P-->glycolysis
needs frucokinase and aldolase B
essential frucosuira and glactokinase def
fructokinase defect; AR
benign asymp b/c fructose can't end cell of liver
frucose in blood/ruine

both are bening
galactokinase def in in urine maybe cataracts and failure to dev social smile
galactosemia
no galactose 1 phosphate uridyltransferase AR
damge inc glaactitol toxic in lens of eye
failure to thrive, jaundice HM, infantile cataracts, mental retardation
exclude galactose, lactose (galactose, + glucose)

nonsense mutation no enzyme activity
galactose in ureine
osmotic damage to eye
mental retardation, cirrhosis, hypoglycemia, cataracts avoid DAIRY (gallons of milk)
GALT (galactose transferase)
what has aldose reductase?
schwann cells, lens retina, kidneys
glucose-->sorbital w/ NADPH

aldose reductase and sorbitol DH in liver ovaries seminal vesicles
high fructase and glactose can also affect
ornithine transcarbomoylase def
OTC, MC urea cycle disorder
XR; all others are AR
excess carbamoyl phosphate-->orotic acid (pyrimidine synthesis)
orotic acid in blood and urine dec BUN
hyperammonemia
pheylketonuria
dec phenylalanine hydroxylase;
tryosine becomes essential AA; inc phenylalanine excess phenylketones in urine
2-3 days AFTER BIRTH (mat enzyme during fetal life)
--mental retard, growth retard, seizures, fair skin, eczema, musty body odor
tx--dec phenylalanine in aspartame and inc tyrosine in diet

AR!!!! disorder of AROMATIC AA metab---musty body ODOR

developmentally delayed; pheotrphy

maternal PKU--lack dietary therapy during pregnancy-->infant microcephaly, mental retard, growth retard, congeital heart defects
MMMMM--mental retard, microcephaly, mousy odor, melanin derives from tyrosines, dec pig; phy (milk) exposure first
alkaptonuria
homogentisat oxidase def; AR
homogentisat-->maleylacetoacetate
black urine (w/ light) and cartialge; degenerative arthritis
no dysfjuctnion
low protien diet is treatment
albinism
AR, tyrosinase (can't synthesize melanin from tyrosine)
defective tyrosine transports
like of migration of neural creast cells
inc risk skin cancer
---XR if ocular albinism
homocystinuria
AR
cystathione synthase def (dec Met inc cys and inc B12 and olfate in diet
decaffinity of cystathionine synthase for B6 (inc B6 alot)
homocystien methytransferase def
cystein becomes essential
----->inc homocystien in urine, vessel thrombosis, , knock kneed, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation downward and inward and atheroslcerosis stroke and MI DVT, PE
---marfanoid

TREAT W/ VIT B6
cystinuria
hereditary defect in renal tubular amino acid transporter for cystein, ronithine, lysine and arginine in the PCT of the kidneys
excess cystine in urine-->cystine kidnye stones (staghorn calculi)
AR
trreat w/ acetazolamide to alkalinize the urine
maple syrup urine disease
branched chain a-ketoacid DH; inc leucine, valine, isoleukine and their ketoacids; avoid aminoacids (ILV i love vermont maple syrup w/ branches) inc a ketoacids esp Leucine

--metnal retardation, seizrues, feeding problems sweet-smelling urine CNS defects and death

--branches of a tree
hartnup disease
AR; defective neutral amino acid transporter on renal and intestinal epithelial cells
tryptophan excretion in urine and dec absorption form gut

PELLAGRA b/c no melatonin or niacin
glycogen storage diseases
very poor carbohydrate metabolism
von gierke's disease- G6P
pompye disease-a14 glucosidase
cori's disease debranch a1,6 glucosidase
mc ardle's disease--lgycogen phsphorylase
von gierke's disease
glycogne storage disease
G6-Pase
G6P-->glucose-->glycogen
glycogenosis, enlarged liver and kidneys, hypoglycemia no response to glucagon or other genesis stim
glucose is trapped in cells
pompe's disesae
lysosomal a1,4 glucosidaes (acid maltase) glycogen storage disease
cardiomegaly and styemic findings to early death
pump (heart, liver, mm)
cori's disease
debranching enyzme a1,6 glucosidase; glycogen storage disease
mild normal lactase
gluconeogensis intact
mcardle's disease
muscle phosphorylase (glycogen to glucose)
inc glycogen in mm
mm fatigue no lactic acid inc w/ exercise;
Mc=muscle
painful mm cramps, myoglobinuria w/ strenuous excersize
SK MM!!!
fabry's disease
periipheral nerupathy of hands/feet, angiokeratomas
def in a-glaactosidase A; inc ceramide trihexoside
XR; lysosomal storage disease
gaucher's disease
MC, AR, def in B-glucocerebrosidase; inc in glucocerebroside

HSM, aseptic necorsi of femus, bone crises, gaucher's cells (macs like crumpled tissue paper)
lysosomal storage disease
neimann-pick disease
dec in sphingomyelinase; inc spingomyelin; AR; lysosomal sorage disease
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
picks nose w/ sphinger
tay-sachs disease
4 base insertion frame shift stop codon, def in hexosamiindidase A; inc GM2 ganglioside
AR, lysosomal storage disease
progressive neurodegen, dev delay, cherry red pot on macula (neimann pick too), lysosome w/ onion skin; no HSM (neiman pick)
SaX (heX)
krabbe' sdisease
glactocerebrosidase def, inc galactocerebroside;
AR, lysosomal storage disease
peripheral neuropathy, dev delay, optic atorphy, globoid cells
metachromatic leukodystrophy
def in arylsulfatase A, inc cerebroside sulfate
AR, lysosomal storage disease
central and peirpheral demyelination w/ ataxia and demenia
hurler's syndrome
a-L iduronidase def, inc heparan sulfate and dermatan sulfate
AR, lysosomal storage disease
dev delay, gargolylism airway obstruct, corneal clouding (can't see to hurl)
hunter's syndrome
iduronate sulfatase def, heparan sulfate and dermatan sulfate inc
XR, lysosomal storage disease
mild hurler's aggreessive behavior no corneal clouding (hunters can see clearly) aim for X
osteogenesis imperfecta
sclera is blue--thinning of sclera from loss of collagen
defect in type 1 collagen
multiple pathologic fractures, dec wound healing
5-fu
blocks thymidylate synthase
dUMP-->dTMP blocks folate
MTX/TMP
blocks dihydrofolate reducate
develop folate def