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61 Cards in this Set

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Nucleotide excision repair
(deficiency)
Xeroderma pigmentosa

dry skin with melanoma and other cancer risk
eXcision
Mismatch repair
Hereditary nonpolyposis colorectal carcinoma
Three sites on ribosome and function thereof
A -- Initial binding of amino acid tRNA

P -- Translocation of growing peptide

E -- Empty tRNA Exits
A-P-E
Amino acid responsible for

N-linkage
Asn
Amino acids responsible for

O-linkage
Ser
Thr
Amino acid responsible for

Sulfation
Tyr
Chediak-Higashi syndrome
Auto Recessive Microtubule deficiency leading to:

Peripheral neuropathy
Failure of phagocytosis
Recurrent staph and strep
Partial albinism
Two motors acting on microtubules
Dynein -- retrograde

Kinesin -- anterograde
Kartagener's Syndrome
Deficient dynein

Situs inversus
Sperm defect
Recurrent lung and airway infections
bronchiectasis
Collagen type I

main constituent of...
Bone (B-One)
Collagen type II

main component of:
Cartilage
Car-two-lage
Cartilage type III

main component of:
(Reticulin)

Skin
blood vessels
uterus
fetal tissue
granulation tissue
Cartilage type IV

main component of:
Basement membrane
Under the Floor
Ehlers-Danlos Syndrome
Defect in collagen synthesis

Usually type III collagen

Hyperextensible skin
Bleeding (vascular break)
Hypermobile joint
Berry aneurysm
Osteogenesis imperfecta
Defect in collagen I

Multiple fractures
Blue sclera
Hearing loss
Dental problems
Cimentin stain
stains for connective tissue
Desmin stain
Stains for Muscle
Cytokeratin stain
stains for epithelial cells
GFAP stain
stains for glia
Glial Fibrillary Acid Protein
Neurofilament stain
Stains for neurons
Hexokinase

Function
Expression pattern
Phosphorylation of glucose at 6 carbon
(high affinity/low capacity)

Expressed ubiquitously
Glucokinase

Function
Expression pattern
Phosphorylation of 6-carbon in glucose
(Low affinity/High capacity)

Expressed in liver only
Phosphofructokinase
Fructose 6-phosphate --> Fructose 1,6 bisphosphate

Activated by:
AMP
*Fructose 2,6 BP*

*Inhibited by:*
ATP
citrate
Pyruvate kinase
Phosphoenolpyruvate --> Pyruvate (inverted!)

* Activators *
Fructose 1,6 bisphosphate

* Inhibitors *
ATP
alanine
Pyruvate Dehydrogenase
Pyruvate --> Acetyl CoA
Requires: Pyrophosphate, FAD, NAD, CoA, Lipoic acid

* Inhibitors *
ATP
NADH
Acetyl CoA
Glycolytic Enzyme Deficiency
95% Pyruvate kinase

also hexokinase, aldolase, enolase, phosphate glycerate kinase

Hemolytic anemia
Pyruvate Dehydrogenase Deficiency

Causes
Findings
Tx
* Causes *
Hereditary
Nutrient deficiency (e.g. B1 in alcoholics)

* Findings *
Neurologic deficits

* Tx *
Ketogenic diet (bypass)
i.e. high fat or high lysine/leucine
Pyruvate carboxylase
Pyrvate --> Pyruvate

Requires:
Biotin
ATP
Gluconeogenesis
PEP carboxykinase
Oxaloacetate --> Phosphoenolpyruvate

Requires:
GTP
Gluconeogenesis
G6PD
X-linked Recessive
HMP shunt deficiency --> increased oxidative stress

* Triggers *
Fava beans
Sulfa drugs
Primaquine
Anti-mycobacterial

* Findings *
Hemolytic anemia with bite cells
Heinz bodies (oxidized Hg)
Aldolase B deficiency
Fructose intolerance

Accumulation of Fructose-1-phosphate, and depletion of phosphate

* Findings *
Hypoglycemia
Jaundice
Cirrhosis
Vomiting
Fructokinase deficiency
Essential fructosuria (benign)

* Findings *
Fructose in blood and urine
Galactosemia
Galactose-1-phosphate uridyl transferase deficiency
(accumulation of galactitol)

* Findings *
Cataracts
Hepatosplenomegaly
Mental Retardation
Essential Amino Acids
P henylalanine
V aline
T ryptophan

T hreonine
I soleucine
M ethionine

H istidine
A rginine
L ysine
L eucine
Hyperammonemia
e.g. ornithine transcarbamoylase deficiency

* Findings *
Tremor
Slurring
Somnolence
Vomiting
Cerebral Edema
Blurred vision

* Tx *
Arginine -- push two steps behind ornithine
Phenylketonuria
Phenylalanine hydroxylase deficiency
Tetrahydrobiopterin deficiency

* Findings *
Mental Retardation
Growth Retardation
Fair Skin (tyrosine --> melanin)
Eczema
Musty body odor

* Tx *
Reduce phenylalanine
Increase tyrosine
Maple Syrup Disease
I Love Vermont
Isoleucine
Leucine
Valine

Deficiency in alpha ketoacid dehydrogenase

* FIndings *
Severe CNS defects
Retardation
Death
Alkaptonuria
(ochronosis)
Homogentistic acid oxidase deficiency (failed degradation of tyrosine)

Benign

* Findings *
Urine black on standing
Dark connective tissues
Arthralgia
Albinism
Tyrosinase deficiency
Tyr transporter deficiency
Neural crest migration defect

* Findings *
Albinism + skin cancer
Homocystinuria
Cystathionine synthase deficiency
Reduced affinity of cyst synthase for vitamin B6
Methionine synthase deficiency

* Findings *
Mental retardation
Tall stature
kyphosis
Lens subluxation
Atherosclerosis
Cystinuria
Defective renal transporter for COLA

Cysteine
Ornithine
Lysine
Arginine

* Findings *
Cysteine kidney stones

* Tx *
Alkalinization of urine (acetazolamide)
Adenosine Deaminase Deficiency
Adenosine --> Inosine
leads to excess dATP and inhibits lymphocytes
Lesch-Nyhan syndrome
HGPRT deficiency
hypoxanthine --> Inosine monophosphate
Guanine --> GMP

Causes excess uric acid production

Retardation
Self-mutilation
Aggression
Hyperuricemia
Gout
Choreoathetosis
Von Gierke's Dz
Glucose-6-phosphatase deficiency

Severe fasting hypoglycemia
Liver glycogen + hepatomegaly
increased Blood lactate
Pompe's Dz
Lysosomal alpha-1,4-glucosidase

Cardiomegaly
Liver issues
Muscle issues
Early Death
Cori's Dz
Alpha-1,6-glucosidase (debranching) deficiency

Like Von Gierke's only milder
Hepatomegaly
Serum lactate
Fasting hypoglycemia
McArdle's Dz
Muscle phosphorylase deficiency

Glycogen accumulation in muscle
Muscle cramps
myoglobinuria
Fabry's Dz
Alpha-galactosidase A
accumulates ceramide trihexoside

Peripheral neuropathy
Angiokeratomas
CV/renal dz
Gaucher's Dz
Beta-glucocerebrosidase
Accumulates glucocerebroside

Hepatosplenomegaly
Aseptic femur necrosis
Bone crisis
Gaucher's macrophages
Niemann-Pick Dz
Sphingomyelinase
Accumulates sphingomyelin

Progressive neurodegeneration
Hepatosplenomegaly
Cherry-red spot on macula
Tay-Sach's Dz
Hexosaminidase A
Accumulates GM2 ganglioside

Progressive neurodegeneration
Developmental delay
Cherry-red spot on macula
Lysozymes
Onion skin
Krabbe's Dz
Beta-galactosidase
Galactocerebroside

Peripheral Neuropathy
Developmental delay
optic atrophy
Metachromatic leukodystrophy
Arylsulfatase A
Accumulates cerebroside sulfate

Central and peripheral demyelination
Ataxia
Dementia
Hurler's syndnrome
Alpha-L-iduronidase
Heparan sulfate

Developmental delay
gargoylism
airway obstruction
corneal clouding
Hepatosplenomegaly

Hunter's Syndrome
Induronate sulfatase
Heparan sulfate

Aggressive behavior
milder hurler's syndrome (gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly)
Familial hyperchylomicronemia
(Type I dyslipidemia)
Lipoprotein lipase deficiency
(accumulate chylomicrons)

Elevated TG
Elevated Cholesterol
Familial Hypercholesterolemia
(Type II dyslipidemia)
Deficiency in LDL receptors
(accumulation of LDL)

Increased cholesterol
Familial Combined Hyperlipidemia
(Type IIb dyslipidemia)
Hepatic overproduction of VLDL
(accumulation of LDL and VLDL)

High TG
High Cholesterol
Familial Dysbetalipoproteinemia
(Type III dyslipidemia)
Altered Apo E
(accumulation of IDL and VLDL)

Increased TG
Increased cholesterol
Familial Hypertriglyceridemia
(Type IV dyslipidemia)
Hepatic overproduction of VLDL

Increased TG
Familial mixed hypertriglyceridemia
(Type V dyslipidemia)
Reduced clearance of VLDL and chylomicrons

Increased TG
Increased cholesterol