High Yield Biochem Flashcards
Lack of UV specific endonuclease causing dry skin and malignant melanoma
Xeroderma Pigmentosum
Lack of Aldolase B causing hypoglycemia, jaundice and cirrhosis
Fructose intolerance
Lack of fructokinase causing fructosemia and fructosuria
essential fructosuria
Lack of galactose-1-phosphate uridyltransferase causing cataracts, hepatosplenomegaly and mental retardation
Galactosemia
Causes lactic acidosis and neurologic deficits in alcoholics
pyruvate dehydrogenase deficiency
Hemolytic anemia in patients of Mediteranean descent after eating fava beans or taking certain medications like antimalarials
Glucose 6 phosphate dehydrogenase deficiency
Hepatocellular accumulation of glycogen caused by a deficiency in glucose-6-phosphatase associated with severe fasting hypoglycemia, lactic acidosis, hyperlipidemia and impaired fructose metabolism
Von Gierke disease (type 1 glycogen storage disease)
Accumulation of glycogen in the liver, heart and muscle caused by a deficiency of lysosomal alpha 1,4 glucosidase resulting in cardiomegaly
Pompe Disease (type II glycogen storage)
enzyme deficient in Von Gierke disease
Glucose-6-phosphatase
enzyme deficient in Pompe disease
alpha 1,4 glucosidase
accumulation of glycogen in the liver and heart due to deficiency of debranching enzyme (alpha 1,6 glucosidase) leading to muscular hypotonia
Cori disease (type III glycogen storage)
Accumulation of glycogen in skeletal muscle due to a deficiency in glycogen phosphorylase leading to myalgia and myoglobinuria with exercise
McArdle disease (type IV glycogen disease)
enzyme deficiency in Cori disease
debranching enzyme (alpha 1,6 glucosidase)
enzyme deficient in McArdle disease
glycogen phosphorylase
Maple Syrup Urine disease is a buildup of branched chain amino acids (Ile, Val, Leu) because of lack of what enzyme?
alpha ketoacid dehydrogenase
Symptoms of PKU
mental retardation, hypopigmentation, mousy odor, eczema
Lack of homogenistic acid oxidase leading to darkening of the urine and connective tissues
Alkaptonuria
enzyme deficient in Alkaptonuria
homogenistic acid oxidase
lack of HGPRT causing an overproduction of uric acid leading to neurologic defects, behavioral abnormalities including self mutilation
Lesch Nyhan syndrome
abnormal FMR1 gene with CGG repeats
Fragile X
XLR deficiency of alpha-galactosidase A leading to a buildup of ceramide trihxoside which causes pain in the extremities, ocular abnormalities, angiokeratomas, cardiovascular disease and renal failure
Fabry disease
AR deficiency of galactosylceramide beta galactosidase leading to cerebral accumulation of galactocerebroside which causes neurologic degeneration
Krabbe Disease (globoid cell leukodystrophy)
enzyme deficient in Lesch Nyhan
HGPRT (hypoxanthine guanine phosphoryltransferase)
enxyme deficient in Fabry disease
alpha galactosidase A
enzyme deficient in Krabbe disease
galactosylceramide beta galactosidase
AR deficiency of Beta glucocerebrosidase leading to accumulation of glucocerebroside in brain, bone marrow, spleen, liver causing hepatosplenomegaly, aseptic necrosis of femur and neuro dysfxn
Gaucher disease
AR deficiency of sphingomyelinase on chromosome 11 leading to a buildup of sphingomyelin and cholesterol in liver, spleen, lymphatic system resulting in cortical atrophy, cherry red macula and hepatosplenomegaly
Neimann-Pick
AR deficiency of hexosaminidase-A on chromosome 18 leading to accumulation of GM2 ganglioside in lysosomes leading to neurologic degeneration, developmental delay, cherry red macula
Tay-Sachs disease
enzyme deficient in Gaucher disease
Beta-glucocerebrosidase
enzyme deficient in Neimann Pick
sphingomyelinase
enzyme deficient in Tay Sachs
Hexosaminidase A
AR deficiency of arylsulfatase A leading to accumulation of cerebroside sulfate and dysfunction/demyelination of central and peripheral NS causing ataxia and dementia
Metachromatic leukodystrophy
XLR deficiency of iduronate sulfatase leading to accumulation of heparan and derm sulfate leading to MR, coarse facial features, short stature
Hunter’s syndrome
AR deficiency of alpha-l-iduronidase leading to buildup of partially degraded glycosaminoglycans in lysosomes resulting in gargoyle-like facies, corneal clouding, hepatosplenomegaly, skeletal abnormalities
Hurler Syndrome
characterized by defective trafficking of enzymes into lysosomes leading to developmental delay and coarse features
I cell disease
enzyme deficient in Metachromatic leukodystrophy
Arylsulfatase A
enzyme deficient in Hurler’s syndrome
alpha-l-iduronidase
enzyme deficient in Hunters syndrome
iduronate sulfatase
disease of cells containing “crinkled paper” cytoplasm and glycolipid-laden macrophages
Gaucher disease
major enzymatic regulator of glysolysis
Phosphofructokinase
major enzymatic regulator of glycogenolysis
glycogen phosphorylase
major enzymatic regulator of pentose phosphate pathway
G6PD
What turns on PFK-1 and thus glycolysis?
AMP, fructose 2,6 bisphosphate
Glycolysis is inhibited by ATP, citrate and cAMP
Glycogen synthase is activated by what molecule?
Glucose 6 phosphate
glucose 6 phosphate inhibits what enzyme?
hexokinase
4 major enzymes that function in gluconeogenesis
Pyruvate carboxylase, PEP carboxylase, Fructose 1,6 bisphosphatase and Glucose-6-phosphatase (Pathway Produces Fresh Glucose)
4 cellular processes supplied by the pentose phosphate pathway
Fatty acid/steroid biosynthesis, Gluthianone reduction of H2O2, Cytochrome P450 system, Respiratory burst
2 amino acids playing a key role in transport of nitrogen from the liver periphery
alanine and glutamine
toxin that uncouples oxidative phosphorylation by increasing the permeability of the inner mitochondrial membrane
2,4 Dinitrophenol
binds to LDL receptor mediating VLDL secretion
Apolipoprotein B100
mediates chylomicron remnant uptake
Apolipoprotein E
cofactor for lipoprotein lipase
Apolipoprotein CII
activates lecthithin cholesterol acyltransferase
Apo AI
Amino acids that are exclusively ketogenic
Leucine and Lysine
AA used to carry ammonium from the muscles to the liver
Alanine
second messengers activated by the Gq receptor
IP3 and DAG
second messenger activated by the Gs receptor
cAMP
enzyme induced by Gq –> IP3, DAG
protein kinase C
enzyme induced by Gs –> cAMP
protein kinase A
fat soluble vitamins are absorbed where?
ileum
this vitamin can remain in the body with stores lasting 3-5 years
vit B12
vitamin that composes NAD and NADP
vit B3 (niacin)
component of CoA and fatty acid synthase
vit B5 (panthothenate)
toxicity of this vitamin causes nausea, stupor and hypercalcemia
vit D
toxicity of this vitamin causes skin changes, arthralgias, premature epiphyseal closure, CNS edema
Vit A (retinol)
Vitamin B1 deficiency
Wernicke Korsakoff, beri beri (thiamine def)
Vit B3 deficiency
Pellagra (dermatitis, dementia, diarrhea) (niacin)
deficiency is caused by long term raw egg ingestion
Biotin (the avidin in egg whites binds it)
deficiency of Vit A
dry skin, dry eyes and night blindness
deficiency of vitamin E sx
hemolysis from RBC fragility and ataxia
deficiency of vit B6 (can be caused by isoniazid use)
EEG changes, peripheral neuropathy (pyridoxine)
deficiency of this element characterized by acrodermatitis and changes in sense of taste and smell
Zinc
