Biochemistry Flashcards
Rate limiting enzyme for Gluconeogenesis
Fructose-1,6- bisphosphatase
Rate limiting enzyme for Glycolysis
PFK-1
Rate limiting enzyme for Glycogenesis
Glycogen synthase
Rate limiting enzyme for Glycogenolysis
Glycogen phosphorylase
Glycogen phosphorylase deficiency
McArdle Dz
Glucose-6-Phosphatase deficiency
von Gierke dz
Lactic acidosis, hyperlipidemia, hyperuricemia
von Gierke dz
a-1,6- glucosidase deficiency
Cori dz
a-1,4- glucosidase deficiency
Pompe dz
Incr glycogen in liver, severe fasting hypoglycemia
von Gierke dz
Hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, Uric acid)
Cori dz
Painful muscle cramps, myoglobinuria w strenuous exercise
McArdle
Severe hepatosplenomegaly, enlarged kidneys
von Gierke
Rate limiting step of Pentose Phosphate pathway
G6P dehydrogenase
Galactokinase deficiency
Galactokinase deficiency
Aldolase B deficiency
Fructose intolerance
Lactase deficiency
Lactose intolerance
Galactose-1-P- uridyltransferase deficiency
Classic Galactosemia
Fructokinase deficiency
Essential Fructosuria
What is the rate limiting enzyme for ketone body synthesis
HMG-CoA synthase
What is the rate limiting enzyme for cholesterol synthesis
HMG-CoA reductase
Rate limiting enzyme for B-oxidation of fatty acids
Carnitine Acyl transferase
What are the essential amino acids
Phenylalanine, Valine, Threonine, Tryptophan, Isoleucine, Methionine, Histidine, Leucine, Lysine
a-ketoacid dehydrogenase B1 deficiency
Maple syrup urine disease
Rate limiting step in Purine synthesis
Glutamate PRPP amidotransferase
What is the rate limiting step in pyrimidine synthesis
Carbamoyl Phosphatase synthetase II
What are the sources of carbons in the formation of purines
CO2, THF, Glycine, Glutamine, Aspartate
What are the sources of carbons in the formation of pyrimidines
CO2, Aspartate, Glutamine
What accounts for the negative charge of DNA
Phosphate group
What accounts for the positive charge of histones
Arginine, Lysine
HGPRT Deficiency
Lesch-Nyhan syndrome
Treatment of Lesch-Nyhan syndrome
Allopurinol
Headache causing condition caused by excess Vit A
Psuedotumor cerebri (incr. CSF pressure)
Clinical findings of B6 deficiency
Same as riboflavin deficiency + convulsions, hyper-irritability and peripheral neuropathy
Characteristics of Dry Beri Beri
- Nonspecific peripheral neuropathy with myelin degeneration
- Toe-drop, wrist-drop, foot-drop
- Muscle weakness, Hyporeflexia, areflexia
Characteristics of Wet Beri Beri
- Peripheral vasodilation –> high output cardiac failure –> peripheral edema
- Cardiomegaly
Rate limiting enzyme of TCA Cycle
Isocitrate dehydrogenase
Rate limiting enzyme of Urea cycle
CPS I
What is the rate limiting enzyme in fatty acid synthesis
Acetyl-CoA carboxylase
Amino acid derivatives of Phenylalanine
- Tyrosine (requires BH4) –> Thyroxine
- Dopa (requires BH4) –> Melanin
- Dopamine (requires B6)
- Norepinephrine (requires Vit. C)
- Epinephrine (requires SAM)
Amino acid derivatives of Tryptophan
- Niacin (requires B6) –> NAD+/NADP+
- Serotonin (requires BH4) –> Melatonin
Amino acid derivatives of Histidine
Histamine; requires B6
Amino acid derivatives of Glycine
-Porphyrin (requires B6) –> Heme
Amino acid derivatives of Arginine
-Creatinine, Urea, NO
Amino acid derivatives of Glutamate
- GABA (requires B6)
- Glutathione
