Test 21- BC Flashcards
alpha galactosidase A def
Fabry disease that leads to the accumulation of ceramide trihexoside
Skin lesions on lower abdomen (angiokeratomas) and fibroblasts that fail to metabolize ceramide trihexosidase.
Fabry disease
without enzyme replacement what can happen to pt’s w/ Fabry’s disease?
renal failure
CV failure
result of mutation in leptin gene/receptor
hyperphagia and profound obesity
HbF
dominates in newborns
2alpha, 2 gamma
Has a high affinity for O2, produced in final 7 mos of gestation
HbF
synthesis begins in liver, continues in spleen, then moves to bone marrow
When do infant switch from HbF to HbA?
during first 6 mos
2 alpha
2 beta
2 alpha
2 delta Hb
Hb A2
Normal variant of human Hb
2 zeta
2 epsilon
Hb Gower
earlierst Hb found in fetus, synthesized in yolk sac and replaced by Hb Portland, before Hb F begins at 10-12 weeks
four gamma
HbBart (4 allele deletion)
homozygous alpha thalassemia
HbBart–has high affinity for O2 and doesn’t release it to tissue> hypoxia>
HYDROPS FETALIS
Plan an important role in mRNA translation regulation and mRNA degradation in the cytoplasm.
Cytoplasmic P bodies
Stop codons
UGA
UAA
UAG
Right shift
ACE BATs (right) handed
Acid CO2 (increase) Exercise (increases lactic acid) 2,3- BPG (increase) Altitude (easier release of O2) Temperature (heat)
**increase in all factors
Left shift O2-Hb dissociation curve
Decreased H (increased pH)
Deceased Co2
Decreased 2,3- BPG
Decreased temp
LUNG left
**decrease in all factors
Anemia affect on pH
severe anemia>
lactic acidosis>
lower blood pH> shifts curve right
Hypoventilation affect on O2-Hb curve
increased CO2>
increased H>
shifts curve right
Def of galactose 1-phosphate uridyl transferase
Classic galactosemia (imapired galactose 1-P metabolism)
MC cause of galactosemia
Vomiting, lethargy and FTT after breastfeeding is begin
Classic galactosemia
restrict lactose
Galactose in blood and urine and infantile cataracts
Galactokinase Def
converts Galactose to Galactose 1-P
Affect of radiation exposure on DNA
DNA ds fractures and formation of free radicals
DNA cross linking
alkylating agents used to tx cancer
pyrimidine pyrimidine (thymine dimers)
UV radiation
Defect in fructokinase leading to benign disorder
Essential fructosuria
Alpha acid glucociadase def
causes glycogen storage disease II (Pompe)
Hepatomegaly, cardiomegaly, increased risk of cirrhosis
What drives the release of H and Co2 from Hb?
Binding of O2 to Hb in the LUNGS (haldane effect)
What facilitates unloading of Hb in the tissues?
High concentrations of CO2 and H (Borh effect)
How do H irons affect Hb?
H ions buffer histidine residues on Hb> help stabilize deoxygenate form of Hb and DECREASE its affinity for O2
Bleeding gums
Eccymoses nad petechiae and impaired wound healing
Lack of vit C impairs collagen hydroyxylation
What pop is vit C def most commonly seen in?
alcoholics
poor
elderly
Perifollicular hemorrheas and coiled (corkscrew) hairs are commonly seen with…
vit C def
Where does translation of collagen alpha chains occur?
RER
Where does hydroxylation of proline and lysine residues making up the alpha chains of collagen occur?
RER
Hydroxylation of proline and lysine residues in collagen helps it to maintain its maximum strength and requires what cofactor
Vit C
What cofactors are necessary for the converstion of homocysteine to methionine?
Methylcobalamin
methyl THF
Why is folate metabolism impaired w/ vit B12 def?
THF4 can’t be regenerated
Two mechanisms that regulate the lac operon:
- Negative= binding of repressor protein to operator locus
2. postiive- cAMP-CAP binding upstream from promoter region
Low glucose
increases AC>
increases CAMP>actiates CAP>
binds CAP site and activates promoter>
increased trxn
High lactose
Unbinds repressor from OPERATOR site>
increased trxn
