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150 Cards in this Set

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achondroplasia (gene)
FGFR3
ADPKD (chr)
chr 16
familial hypercholesterolemia (type IIa) (gene)
LDLR
Huntington's disease (chr)
chr 4
NF1 (chr)
chr 17
NF2 (chr)
chr 22
VHL (gene, function, chr)
VHL, tumor suppressor gene, chr 3
CF (chr)
chr 7
Huntington's disease (XXX)n
(CAG)n
Myotonic dystrophy (XXX)n
(CTG)n
Friedreich's ataxia (XXX)n
(GAA)n
Fragile X syndrome (XXX)n
(CGG)n
Williams syndrome (del __)
del 7q
involved in decarboxylation reactions including pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, transketolase, branched-chain amino acid dehydrogenase
B1 - thiamine - TPP
deficiency causes polyneuritis and muscle wasting and/or high-output heart failure
beriberi, from B1 - thiamine - TPP deficiency
syndrome with ophthalmoplegia, ataxia, and confusion
Wernicke's encephalopathy, from B1 - thiamine - TPP deficiency
syndrome with confabulation, permanent memory loss, and hallucinations
Korsakoff's psychosis from B1 - thiamine - TPP deficiency
cofactor in redox reactions (FAD)
B2 - riboflavin - FAD/FMN
deficiency causes cheliosis, corneal revascularization, as well as glossitis and dermatitis
B2 - riboflavin - FAD/FMN
cofactor in redox reactions (NAD)
B3 - niacin - NAD+
vitamin whose synthesis requires vitamin B6
B3 - niacin - NAD+
deficiency causes diarrhea, dermatitis, dementia
B3 - niacin - NAD+
vitamin involved in acyl transfers performed by fatty acid synthase
B5 - pantothenate - CoA
deficiency causes dermatitis, enteritis, alopecia, and adrenal insufficiency
B5 - pantothenate - CoA
vitamin required for the synthesis of cystathionine, heme, niacin, and GABA
B6 - pyridoxine - PLP
vitamin involved in transamination, decarboxylation, and glycogen phosphorylase
B6 - pyridoxine - PLP
deficiency causes seizures, peripheral neuropathy, and sideroblastic anemia
B6 - pyridoxine - PLP
deficiency can be precipitated by isoniazid or OCPs
B6 - pyridoxine - PLP
vitamin involved in 1-carbon transfer (methylation) reactions
B9 - folic acid - THF
vitamin important for synthesis of dTMP
B9 - folic acid - THF
deficiency causes megaloblatic anemia without neurological symptoms in adults, but causes neural tube defects in fetuses
B9 - folic acid - THF
vitamin is a cofactor for homocysteine methyltransferase and methylmalonyl-CoA mutase
B12 - cobalamin
deficiency causes megaloblastic anemia, hypersegmented neutrophils, parasthesias, subacute combined degeneration (irreversible)
B12 - cobalamin
cofactor for carboxylation enzymes that is synthesized in the gut
B7 - biotin
deficiency causes dermatitis, alopecia and enteritis; can be precipitated by avidin in raw egg whites
B7 - biotin
an antioxidant that facilitates Fe absorption by keeping it reduced; also necessary for dopamine B-hydroxylase
vitamin C - ascorbic acid
deficiency leads to swollen gums, bruising, bleeding, anemia, poor healing, and immunodeficiency
vitamin C - ascorbic acid - syndrome is scurvy
deficiency causes night blindness, dry skin
vitamin A - retinol
component of rhodopsin and an anti-oxidant
vitamin A - retinol
D2 is called...
ergocalciferol
D3 is called...
cholecalciferol (from milk, sun)
storage form of vitamin D
25(OH)-D3
active form of vitamin D
1,25(OH)-D3 (calcitriol)
increases intestinal absorption of Ca and phosphate, and increases bone resorption
vitamin D
excess causes hypercalcemia, hypercalcuria, anorexia and stupor
vitamin D toxicity
an important antioxidant; deficiency can cause hemolytic anemia as well as posterior column and spinocerebellar tract demyelination leading to sensory deficits, stupor
vitamin E
catalyzes gamma-carboxylation of glutamic acid residues
vitamin K
deficiency can cause abnormal collagen cross-linking as well as muscle weakness and neurological deficits
copper
deficiency can cause congestive cardiomyopathy (Keshan disease)
selenium
deficiency can cause growth retardation and poor wound healing
zinc
RDS of glycolysis
PFK1
RDS of gluconeogenesis
F-1,6-bisphosphatase
RDS of TCA cycle
isocitrate dehydrogenase
RDS of glycogen synthesis
glycogen synthase
RDS of glycogenolysis
glycogen phosphorylase
RDS of HMP shunt
G6PD
RDS of de novo pyrimidine synthesis
carbamoyl phosphate synthase II
RDS of de novo purine synthesis
glutamine-PRPP aminotransferase
RDS of urea cycle
carbamoyl phosphate synthase I
RDS of fatty acid synthesis
acetyl-CoA carboxylase
RDS of fatty acid oxidation
carnitine acyltransferase I
RDS of ketogenesis
HMG-CoA synthase
RDS of cholesterol synthesis
HMG-CoA reductase
site of fatty acid oxidation
mitochondria
site of acetyl-CoA production
mitochondria
site of TCA cycle
mitochondria
site of electron transport chain
mitochondria
site of glycolysis
cytoplasm
site of fatty acid synthesis
cytoplasm
site of HMP shunt
cytoplasm
site of protein synthesis
rough ER and free ribosomes in the cytoplasm
site of steroid synthesis
smooth ER
site of protein sorting and modificaction
Golgi apparatus
site of heme synthesis
both mitochondria and cytoplasm
site of urea cycle
both mitochondria and cytoplasm
site of gluconeogenesis
both mitochondria and cytoplasm
in the heart and liver, 1 glucose makes ___ ATP due to the malate-aspartate shuttle
32
in the muscle, 1 glucose makes ___ ATP due to the glycerol-3-phosphate shuttle
30
aromatic essential amino acids
phenylalanine, tryptophan
branched chain essential amino acids
valine, isoleucine, leucine
polar but uncharged essential amino acids
methionine, threonine
basic essential amino acids
histidine, lysine
acidic amino acids (not essential)
aspartate, glutamate
basic amino acids (all)
histidine, arginine, lysine
defect in glucose-6-phosphatase
Von Gierke's disease (GSD type I)
defect in lysosomal alpha-1,4-glucosidase (aka acid maltase)
Pompe's disease (GSD type II)
defect in alpha-1,6-glucosidase (debranching enzyme)
Cori's disease (GSD type III)
defect in skeletal muscle glycogen phosphorylase
McArdle's disease (GSD type V)
build-up of ceramide trihexoside
Fabry's disease (x-linked)
deficiency of alpha-galactosidase
Fabry's disease (X-linked)
deficiency of glucocerebrosidase
Gaucher's disease
build-up of glucocerebroside
Gaucher's disease
build-up of sphingomyelin
Niemann-Pick disease
deficiency of sphingomyelinase
Niemann-Pick disease
build-up of GM2 ganglioside
Tay-Sachs disease
deficiency of hexosaminidase A
Tay-Sachs disease
defect of galactocerebrosidase
Krabbe's disease
build-up of galactocerebroside
Krabbe's disease
defect of arylsulfatase A
metachromatic leukodystrophy
buildup of cerebroside sulfate
metachromatic leukodystrophy
deficiency of alpha-L-iduronidase
Hurler's syndrome
deficiency of iduronate sulfatase
Hunter's syndrome (X-linked)
build-up of heparan sulfate and dermatan sulfate
Hunter's and Hurler's syndromes
essential amino acids (list them)
phenylalanine, tryptophan (aromatic); leucine, isoleucine, valine (branched); methionine, threonine (polar); histidine, lysine (basic)
defect in ability to transfer enzymes from lysosomes to phagocytic vesicles --> infections, anemia, thrombocytopenia
Chediak-Higashi syndrome
for a non-competitive inhibitor, is Km or Vmax the same?
Km
for a competitive inhibitor, is Km or Vmax the same?
Vmax
antidote for AChE inhibitors
pralidoxime chloride
gamma-glytamyl transferase (GGT) is elevated in
biliary obstructions, pancreatic cancer, and alcohol-induced liver disease
autosomal dominant mutations in glucokinase result in
MODY
Which has a high Km (low affinity), glucokinase or hexokinase?
Glucokinase, because this is how the liver senses blood glucose levels. Hexokinase has a low Km and is constitutively active
F-2,6-BP ____ PFK-1
stimulates
AMP ___ PFK-1
stimulates
ATP ____ PFK1
inhibits
citrate ___ PFK1
inhibits
FADH2 is worth ___ molecules of ATP
1.5
NADH is worth ___ molecules of ATP
2.5
1 acetyl-CoA is worth ___ molecules of ATP
10
pyruvate carboxylase requires the vitamin...
B7, biotin
alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase require the vitamin...
B1, thiamine, TPP
Leber's hereditary optic neuropathy results from...
defect in mtDNA (cytochrome reductase) --> loss of central vision in males in 3rd decade
number of ATP required to synthesize 1 molecule of glucose via gluconeogenesis
6
causes accumulation of oxalate in type I primary oxaluria
missing the transaminase that converts glyoxalate to glycine
causes histidinemia
missing histidase
causes excessive production of methyl citrate, a TCA poison
methylmalonyl CoA mutase deficiency
causes accumulation of homocystine and methionine (homocystinuria)
defect in cystathionine B synthase
causes accumulation of branched-chain amino acids (valine, isoleucine, leucine)
maple syrup urine disease, deficiency of alpha-ketoacid dehydrogenase
causes build-up of homogentisic acid (alkaptonuria)
deficiency of homogentisate oxidase
causes build-up of isovaleryl CoA, a leucine degradation product (isovaleric acidemia)
deficiency of isovaleryl CoA dehydrogenase
MR, spasticity, seizures, HSM, cherry red macula, ataxia, death by 2-3
Niemann-Pick disease
neurodegeneration, cherry red macula, no HSM, death by age 4
Tay-Sachs disease
acroparesthesias (extremity pain), angiokeratomas, hypohidrosis, ischemic infarction of kidneys, heart, and brain
Fabry disease
demyelination leads to spasticity, decerebrate posturing, blindness, deafness, and death
Krabbe disease
HSM, thrombocytopenia, Erlenmeyer flask deformity of distal femur
Gaucher disease
demyelination leads to neurological decline, ataxia, hyporeflexia, and seizures
metachromatic leukodystrophy
periodic attacks of renal colic, neuropathy, psychosis, and tachycardia; precipitated by drugs like steroids, barbiturates, and alcohol
acute intermittent porphyria (autosomal dominant)
defect in uroporphyrinogen decarboxylase
porphyria cutanea tarda, leads to photosensitivity with bullae
defective enzyme in acute intermittent porphyria
hydroxymethylbilane synthase (aka porphobilinogen deaminase)
alcoholics have high or low NADH/NAD+ ratio
HIGH (too much NADH)
hormone that acts through a tyrosine kinase that stimulates IRS-1
insulin
hormones that act through a GPCR --> adenylate cyclase --> ATP to cAMP --> PKA
glucagon, EPI
hormone that signals increased blood volume; signals through a GPCR --> PKG
atrial natriuretic peptide
hormones that signal through a GPCR --> PKC
TRH, oxytocin
thyroid hormones, vitamin D, and retinoic acid act in the...
nucleus!
ataxia-telangiectasia is a DNA repair defect affecting...
ability to repair damage from ionizing radiation; leads to T-cell leukemias and lymphomas
Bloom syndrome is a DNA repair defect affecting...
ability to repair DNA damage from UV exposure; leads to skin cancer
Fanconi anemia is a DNA repair defect affecting...
DNA cross-linking repair with sensitivity to nitrogen mustards; leads to leukemia
Li-Fraumeni syndrome is a defect in ___ affecting DNA repair...
p53; permits cell to pass cell cycle checkpoints despite messed up DNA; leukemia, sarcoma, breast CA, CNS tumors
HNPCC is a DNA repair defect affecting...
mismatch repair; leads to colon, ovarian, and endometrial cancer
xeroderma pigmentosum is a DNA repair defect affecting
ability to repair thymidine dimers caused by UV; leads to skin and ocular cancers