Amino acid metabolism and disorders US Medical PG Flashcards - Medical Study Cards
Master Amino acid metabolism and disorders with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Amino acid metabolism and disorders Flashcard Deck - 49 Cards
Flashcard 1: What stainable protein is abundant in astrocytes?
Answer: GFAP
Flashcard 2: What enzyme converts pyruvate to alanine?
Answer: alanine aminotransferase (ALT)
Flashcard 3: myeloperoxidase
Answer: respiratory burst
Extra: H2O2 HOCl PMNs
Flashcard 4: superoxide dismutase
Answer: respiratory burst
Extra: O2- H2O2
Flashcard 5: The Golgi makes modifications to some amino acids trafficking through it. What are the modifications made to threonine?
Answer: O-oligosaccharide
Flashcard 6: The Golgi makes modifications to some amino acids trafficking through it. What are the modifications made to asparagine?
Answer: N-oligosaccharide
Flashcard 7: The Golgi makes modifications to some amino acids trafficking through it. What are the modifications made to serine?
Answer: O-oligosaccharide
Flashcard 8: cystinuria
Answer:
Extra: cystine crystals in urine, staghorn calculi in renal pelvis
hydration, urinary alkalinization AR amino acid transporter in PCT of kidney
Flashcard 9: Give the essential, gluconeogenic amino acids.
Answer: Met, Val, His
Flashcard 10: Give the essential, gluconeogenic/ketogenic amino acids.
Answer: Ile, Phe, Thr, Trp
Flashcard 11: Give the essential, ketogenic amino acids.
Answer: Leu, Lys
Flashcard 12: Give the acidic amino acids.
Answer: Asp, Glu
Flashcard 13: Give the basic amino acids.
Answer: Arg, Lys, His (but His uncharged at normal pH)
Flashcard 14: What amino acids are used to transport ammonium around the body?
Answer: alanine, glutamate
Flashcard 15: Give the sequence of catelcholamine synthesis.
Answer: Phenylalanine, tyrosine, dopa, dopamine, NE, Epi
Flashcard 16: phenylketonuria (PKU)
Answer:
Extra: mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor limit phenylalanine in diet and increase tyrosine in diet AR phenylalanine hydroxylase
Flashcard 17: maple syrup urine disease
Answer:
Extra: blocked degradation of branched amino acids in infant: severe CNS defects, mental retardation, death, urine smells like maple syrup AR α-ketoacid dehydrogenase
Flashcard 18: homocystinuria
Answer:
Extra: mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis homocystinuria varies depending on specific defect; dietary supplementation of one or more of: cystiene, B6, folate, B12, AR cystathione synthase or homocystiene methyltransferase
Flashcard 19: How many kcal are produced per gram of protein?
Answer: 4 kcal
Flashcard 20: carnitite deficiency
Answer:
Extra: inability to transport long chain fatty acids into mitochondria weakness, hypotonia hypoketotic hypoglycemia
Flashcard 21: Hartnup disease
Answer:
Extra: increased tryptophan excretion in urine and decreased absorption by gut pellagra unresponsive to tryptophan supplementation AR amino acid transporter of kidneys and intestine
Flashcard 22: G6PD deficiency
Answer:
Extra: inability to detoxify free radicals and oxidizers hemolytic anemia upon infection or exposure to oxidizing agents Heinz bodies and bite cells on peripheral blood smear
black race XR G6P dehydrogenase
Flashcard 23: galactokinase deficiency
Answer:
Extra: galactitol accumulates in cells infantile: cataracts, failure to track objects or develop social smile galactosemia, galactosuria AR galactokinase
Flashcard 24: classic galactosemia
Answer:
Extra: galactitol accumulates and sequesters phosphate needed for other pathways infantile: failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation galactosemia limit galactose and lactose in diet AR galactose-1-phosphate uridyltransferase (GALT)
Flashcard 25: lactase deficiency (lactose intolerance)
Answer: hereditary, age-dependent, or post-gastroenteritis
Extra: bloating, cramps, osmotic diarrhea after dairy meal restrict dairy intake, lactase supplementation
Flashcard 26: What isomer of amino acids are found in proteins?
Answer: L-form only
Flashcard 27: pyruvate dehydrogenase complex (PDC) deficiency
Answer:
Extra: neurologic deficits starting in infancy metabolic acidosis increase intake of ketogenic nutrients (Lysine and Leucine) XR (but variable expressivity, so some female carriers may show mild symptoms) one component of PDH complex
Flashcard 28: s-adenosyl methionine (SAM)
Answer: methyl groups
Flashcard 29: glutamine-PRPP amidotransferase
Answer: de novo purine synthesis
Extra: AMP, IMP, GMP
Flashcard 30: If an enyzme is a carboxylase, what do you know about its function?
Answer: transfers CO2 groups with help of biotin
Flashcard 31: Western
Answer: protein
Extra: labeled antibody
Flashcard 32: What occurs during the glycosylation step of collagen synthesis?
Answer: glycosylation of hydroxylysine residues and formation of procollagen triple helix
Flashcard 33: What occurs during the proteolytic processing step of collagen synthesis?
Answer: cleavage of procollagen ends, transforming it into insoluble tropocollagen
Flashcard 34: What occurs during the cross-linking step of collagen synthesis?
Answer: covalent cross-linking of tropocollagen lysine and hydroxylysine residues to form collagen fibrils
Flashcard 35: What enzyme and cofactor are necessary for tropocollagen cross-linking?
Answer: lysyl oxidase and Cu2+
Flashcard 36: Elastin is rich in which amino acids?
Answer: proline, glycine
Flashcard 37: What is the relationship between elastin, elastase, and α-1 antitrypsin?
Answer: elastin - structural protein
elastase - protease that degrades elastin
α-1 antitrypsin - protease inhibitor that blocks action of elastase
Flashcard 38: The Golgi makes modifications to some amino acids trafficking through it. What are three such amino acids?
Answer: asparagine, serine, threonine
Flashcard 39: zymogen
Answer: inactive protein which can be cleaved to generate active form
Flashcard 40: Are aminoacyl-tRNA synthetases specific to the amino acid or the tRNA?
Answer: the amino acid
Flashcard 41: What is the usual amino acid pattern of collagen?
Answer: Gly-X-Y where X and Y are proline or lysine
Flashcard 42: Where does the cross-linking step of collagen synthesis occur?
Answer: extracellular space
Flashcard 43: Where does the proteolytic processing step of collagen synthesis occur?
Answer: extracellular space
Flashcard 44: Where does the hydroxylation step of collagen synthesis occur?
Answer: ER
Flashcard 45: What is the function of the proteasome?
Answer: degrades proteins tagged with ubiquitin
Flashcard 46: orotic aciduria
Answer:
Extra: inability to convert orotic acid to UMP failure to thrive in newborn megaloblastic anemia (not improved by B12 or folate), increased orotic acid in urine, NO hyperammonemia oral uridine
AR
UMP synthase
Flashcard 47: Which amino acids are necessary for de novo pyrimidine synthesis?
Answer: aspartate
Flashcard 48: Which amino acids are necessary for de novo purine synthesis?
Answer: Glycine, Aspartate, Glutamaine
mnemonic: GAG
Flashcard 49: adenosine deaminase deficiency
Answer:
Extra: build-up of ATP/dATP in cells recurrent infections in infant, SCID leukopenia
AR
adenosine deaminase (ADA)
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