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52 Cards in this Set
- Front
- Back
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PKU
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-musty odor!
-can't convert phenylalanine to tyrosine due to deficiency of phenylalanine hydroxylase or tetrahydrobiopterin --> increased Phe, decreased Tyr! |
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megaloblastic anemia
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-folate/B12 deficiency
*can differentiate bw the two if there is neurologic abnormality and normal levels of methylmalonic acid --> B12 deficiency |
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B12 deficiency
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-increased methylmalonic acid levels
-impaired myelin synthesis -parasthesia, impaired proprioception |
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which vitamin is deficient?
confusion, confabulation, ataxia |
B1 (thiamine)
Wernicke-Korsakoff syndrome -typical in alcoholics |
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I cell disease
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failure of addition of mannose-6-phosphate to lysosomal proteins --> relaease of lysosomal proteins (hexosaminidase, iduronate sulfatase, arylsulfatase A) into EXTRAcellular space
-skeletal abnormalities, coarse face, restricted movement |
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Apolipoprotein B
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mediates extracellular secretion of chylomicrons
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Niemann-Pick disease
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deficient sphingomyelinase
-progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula |
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congenital albinism
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-due to tyrosinase deficiency, which is needed for converting tyrosine to melanin
*can also be caused by altered neural crest migration |
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obstructive liver disease
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-jaundice,
-failed excretion of conjugated bilirubin --> hyperbilirubinemia, increased urine bilirubin, decreased urine oribilinogen |
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calcium-calmodulin complex
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activates myosin light chain kinase --> phosphorylates myosin and allows it to bind to actin --> contraction and shortening of muscle fiber
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a diet free of branched chain amino acids is used to treat...
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maple syrup urine disease
-sweet smelling urine -caused by deficiency of alpha-ketoacid dehydrogenase -cannot degrade isoleucine, leucine, valine (I love vermont) |
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low fructose diets are used to treat...
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hereditary fructose intolerance
-deficiency of aldolase B --> accumulation of fructose-1-phosphate --> fall in ATP -patients present with jaundice, cirrhosis, and hypoglycemia after ingesting fructose |
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diets high in ketogenic nutrients (fats) are used to treat...
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pyruvate dehydrogenase deficiency
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low tyrosine diets are used to treat...
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type ll tyrosinemia
-patients unable to completely metabolize tyrosine -patients present with mental retardation and eye and skin lesions |
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SCID
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-adenosine deaminase deficiency--> inability to complete DNA synthesis in B and T cells
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xeroderma pigmentosa
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-defect in excision repair --> unable to repair thymidine dimers formed by UV light --> squamous cell carcinoma and skin lesions
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which TCA intermediate inhibits the rate-limiting enzyme of glycolysis and activates the rate-limiting enzyme of FA synthesis?
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citrate! it inhibits PFK and allosterically activates acetyl CoA carboxylase
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nephrogenic diabetes insipidus
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pathology of ADH (V2) receptor in kidney
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alkaptonuria
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deficiency of homogentisic acid oxidase (defect on chromosome 3)
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osteogenesis imperfecta
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-bones, tendons, skin affected
-characterized by spontaneous bone fractures, retarded wound healing, blue sclerae -abnormal Type 1 collagen synthesis |
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5-alpha-reductase deficiency
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external genitalia are ambiguous until puberty
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Neurofibromatosis type 2
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mutation in NF2 gene on chromosome 22
-decreased hearing, ringing of the ears -CN 8 affected |
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metachromatic leukodystrophy
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-lysosomal storage disease
-patients can't degrade sulfatides--> accumulation of neuronal and non-neuronal tissues --> loss of motor and cognitive function |
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von hippel-landau syndrome
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-abnormal blood vessel growth
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Hb barts
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alpha thalassemia; no alpha chains are made
-high oxygen affinity, poor oxygen delivery to peripheral tissues |
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alkaptonuria
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-deficiency of homogentisate oxidase --> black urine
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cystic fibrosis
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-most common lethal disease in caucasians
-recurrent lung infections, digestive abnormalities -mutation in CFTR gene on chromosome 7, which regulates Cl- flux --> increased [Cl-] |
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G6P deficiency
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-normal G6P generates NADPH, which is used to reduce glutathione --> detoxifies oxidizing agents
-G6P deficiency manifests during time of infection--> unable to detoxify oxidizing agents and certain drugs |
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competitive inhibitors
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-change affinity (Km) for a substrate, but do not change Vmax
-reversible (opposite for noncompetitive inhibitors) |
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essential amino acids
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PriVaTe TIM HALL
-phe, val, trp, thr, ile, met,his, arg, leu, lys (his and arg become essential during periods of growth) |
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chronic myelogenous leukemia (CML)
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-the abnormal product of Philadelphia chromosome (translocation t[9:22]) produces a bcr-abl protein that acts as an overactive tyrosine kinase receptor --> leukemia growth
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multiple myeloma
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abnormal plasma cells that produce excessive IgG or IgA
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follicular lymphoma
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-overproduction of bcl-2, an antiapoptotic protein
-most common is non-Hodgkin's lymphoma (translocation t[14:18]) |
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lesch-nyhan syndrome
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-deficiency of HGPRT production--> overproduction of purines and accumulation of uric acid
-self mutilation, mental retardation |
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Li-Fraumeni cancer syndrome
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one copy of p53 tumor suppressor gene carries a mutation
family members have increased risk of malignancy as children or young adults |
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Hunter's syndrome
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deficiency of iduronate sulfatase --> musculoskeletal abnormalities, mental retardation
similar to Hurler's syndrome, but without clouded corneas |
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activation of Histamine 1 receptors result in....
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symptoms consistent with seasonal allergies
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activation of alpha-1 receptors result in...
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vasoconstriction and increased blood pressure
receptors found in blood vessel walls |
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activation of beta-1 receptors result in...
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inotropy (contractility) and chronotropy (heart rate)
receptors found in heart |
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phosphatidylcholine
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-importqnt component in lipid-rich surfactant
deficiency --> alveolar collapse |
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factor V Leiden thrombophelia
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inherited condition that predisposes patients to thromboses
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familial hypercholesterolemia
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increased levels of LDL --> increase risk of atherosclerosis, MI, stroke
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hemophilia A
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spontaneous bleeding, easy bruising, repetitive hemarthroses
due to deficiency of factor Vlll |
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vWF deficiency
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prolonged bleeding time (less adhesion of platelets)
can be distinguished from factor Vlll deficiency because bleeding time is normal in factor Vlll |
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galactosemia
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deficiency of galactose-1-phosphate uridyltransferase--> accumulation of toxic byproducts of abnormal galactose metabolism
cataracts, jaundice, mental retardation |
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T vs R form of hemoglobin
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relaxed form of hemoglobin has higher affinity for oxygen --> less unloading of oxygen --> curve shifts to left
taut form has less affinity for hemoglobin --> increases oxygen unloading --> curve shifts to right binding of CO2 and 2,3 BPG stabilize taut form --> decreasing oxygen affinity CO stabilizes R form |
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aldose reductase deficiency
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increase sorbitol in the lens of the eye --> swelling and cataracts
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which cells use SGLT to transport glucose?
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enterocytes, nephrons
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Kartagener's syndrome
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defect in dynein --> immotile cilia --> infertility
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most likely cause of congenital albinism
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tyrosinase deficiency
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McArdle's disease
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glycogen storage disorder
glycogen phosphorylase deficiency --> muscle cramping, rapid fatigue |
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porphyria cutanea tarda
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most commonly diagnosed porphyria
caused by deficiency of uroporphyrinogen decarboxylase (involved in heme synthesis) |
