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1231 Flashcards

1
Q

Galactose metabolism?

A

Most commonly from lactose (glucose-galactose), with lactase in GI breaking down. Galactose -(galactokinase)-> galactose-1P -(Uridyltransferase)-> Glucose-1-P

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2
Q

Galactokinase deficiency?

A

AR. Galactose in blood and urine. Galactitol accumulation (via aldose reductase) -> infantile cataracts (failure to track or develop social smile).

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3
Q

Classic galactosemia

A

AR. Absence of galactose-1-phosphate uridyltransferase. Galactitol accumulation (via aldose reductase) -> cataracts. FTT, jaundice, hepatomegaly, ID. Tx = exclude galactose and lactose.

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4
Q

Sorbitol

A

Keeping glucose in a cell for later use into fructose via sorbitol dehydrogenase. (Glucose -aldose reductase-> sorbitol). Liver, ovaries, seminal vesicles have both. Schwann cells, retina, kidneys, lens primarily has aldose reductase, making these cells susceptible to osmotic dmg with hyperglycemia OR with high galactose lvls.

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5
Q

Lactase deficiency

A

Primary - age-dependent decline (absence of lactase-persistent allele)Secondary - loss of BRUSH BORDERDx - stool w/ dec. pH and breath with inc. hydrogen content with lactose tolerance test.Osmotic diarrhea.

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6
Q

What aa’s found in histones?

A

Positively charged (basic) Arginine and lysine.

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7
Q

Glucogenic aa’s v. Ketogenic aa’s?

A

Met, Val, His v. Leu, Lys; Ile, Phe, Thr, Trp are both.VeHeMetly sugary. Kato went to LaLa land.PITT - best of both worlds.

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8
Q

Rate limiting enzyme of urea cycle?

A

Carbomyl phosphate synthetase I. In mitochondria. CO2 + NH3 + 2ATP -> Carbomyl phosphate

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9
Q

Urea Cycle?

A

Carbomyl phosphate + ornithine -(ornithine transcarbamylase)-> citrulline + Asp + ATP -(argininosuccinate synthetase)-> argininosuccinate -(argininosuccinase)-> arginine + (fumarate) -(Arginase)-> Urea + ornithinePoint is to remove ammonia. (Urea gets N from ammonia and aspartate).

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10
Q

How does ammonia from muscle get to the liver?

A

Turned into alanine before transported to liver for transamination into pyruvate + glutamate (->-> urea)

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11
Q

AST and ALT do what?

A

Asparate + alpha-ketoglutarate oxaloacetate + glutamate

Alanine + alpha-ketoglutarate pyruvate + glutamate

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12
Q

Hyperammonemia

A

Acquired (liver disease) or secondary (urea cycle pblem) - excess free NH4, depleting alpha-ketoglutarate, which stops TCA. Tx = limit protein. Benzoate or phenylbutyrate, which bind aa to excrete. Lactulose to acidify GI and trap NH4+ for excretion. Asterixis, slurring, somnolence.

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13
Q

Hereditary hyperammonemias

A

Ornithine transcarbamylase deficiency - X-linked rec. Mitochondria. Excess carbonyl phosphate -> orotic acid. Inc. orotic acid, dec. BUN, hyperammonemia symptoms. NO megaloblastic anemia unlike orotic acuduria.CPS-1 deficiency

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14
Q

Phenylalanine, Tryptophan, and Histidine make what important compounds?

A

Phe - Thyroxine, Melanin, Dopamine, NE, EpiTry - Niacin, NAD, Serotonin, MelatoninHis - Histamine

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15
Q

Glycine, Glutamate, Arginine make what important compounds?

A

Gly - Porphyrin, hemeGlut - GABA, glutathioneArginine - Creatine, Urea, Nitric oxide

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16
Q

Overview of Phenylalanine/Tyrosine catabolism?

A

Phe -(phenylalanine hydroxylase, BH4)-> Tyr; PKUTyr -(tyr hydroxylase,BH4)-> DOPA -(DOPA decarboxylase, B6)-> dopamine-(r. VitC)-> NE -(r. SAM)-> Epi -> MetanephrineDopamine -> homovanillic acidNE -> Normetanephrine -> vanillylmandelic acidDOPA -(tyrosinase)-> melanine; ALBINISMTyr ->-> homogentisic acid -(Homogentisate oxidase)-> Maleylacetoacetic acid -> TCA; Alkaptonuria

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17
Q

Alkaptonuria

A

AR. Benign. Deficiency of homogentisate oxidase (tyr -> fumarate pathway). Dark CT, brown sclerae, urine turns black in air. Arthralgias (2/2 cartilage tox of homogentisic acid)

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18
Q

Homocystinuria

A

Homocystein in urine, ID, osteo, tall, kyphosis, lens, atherosclerosis.Varied etio - Cystathionine synthase deficiency, homocysteine methyltransferase deficiency, dec. pyridoxal phosphate binding to cystationine synthase

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19
Q

Cystinuria

A

Defect of aa transport (COLA) in renal proximal convoluted tubule leading to hexagonal cystine (=cysteine x2) stones. AR. Dx = cyanide-nitroprusside test. Tx = urinary alkalinization and chelating.

20
Q

Maple Syrup Disease

A

Normally branched chained aa’s (Ile, Leu, Val) converted to alpha-keto acids peripherally via alpha-ketoacid dehydrogenase (B1). Urine smells like syrup. FTT, CNS defects, ID.Tx = restrict ILV (I Love Vermont), and thiamine +keto acid supplementation

21
Q

Glycogen regulation by insulin and glucagon/epi?

A

Glucagon and epi both eventually act on glycogen phosphorylase kinase, which phosphorylates glycogen phosphorylase. Glucagon (liver) and Epi-Beta (liver and muscle) -> adenylate cyclase pathway and PKA. Epi-alpha (liver) uses ER and Ca2+ directly onto glycogen phosphorylase kinase.Insulin inhibits glycogen phosphorylase via a phosphatase. And pushes glycogen synthase.

22
Q

Glycogenolysis?

A

Glycogen phosphorylase removes branch down to 4 residues. 4-alpha-D-glucoanotransferase moves 3 glucose-1P’s, then alpha-1,5 glucosidase cleaves last oneCleaves off glucose-1P -(glucose-6-phosphatase)-> Glucose-6-P

23
Q

Glycogenesis?

A

Glucose 1-P -(UDP-glucose pyrophosphorylase)-> UDP-glucose -(glycogen synthase)-> glycogen;Links are alpha-1,4 while branches are alpha-1,6

24
Q

Glycogen storage disease (four of them)

A

Very Poor Carbohydrate MetabolismVon Gierke (most common), Pompe, Cori, McArdle (V)

25
Q

Von Gierke disease (type I)

A

Glucose-6-phosphatase; Severe fasting hypoglycemia. Lactate high, glycogen high, hepatomegaly. Cells can’t remove phosphate off of glucose-6P; AR. Tx = freq. oral glucose; avoid fructose and galactose.

26
Q

Pompe disease (II)

A

Lysosomal alpha-1,4-glucosidase (small amount of glycogen degraded via this method). Cardiomyopathy. AR. So much POMPE for little lysosomal enzyme.

27
Q

Cori disease (III)

A

Alpha-1,6,glucosidase (last debranch). AR. Gluconeogenesis okay. Mild von Vierke.

28
Q

McArdle disease (IV)

A

Skeletal muscle glycogen phosphorylase. AR. Increased Glycogen in MUSCLE but CAN’T break down-> cramps, MYOglobinuria with exercise, arrhythmias.

29
Q

Fabry Disease

A

alpha-galactosidase A. Ceramide trihexoside. XR. Peripheral neuropathy, angiokeratomas, cardio/renal. Fabry

30
Q

Gaucher disease

A

Glucocerebrosidase (B-glucosidase). Glucocerebroside. AR. Hepatosplenomegaly, pancytopenia, GAUCHER cells (lipid-laden macrophages!). Recombinant glucocerebrosidase available tx. Gaucher cells love fat, but Gaucher loves glucose.

31
Q

Tay-Sachs disease

A

Hexosaminidase A. GM2 ganglioside. AR. CHERRY-Red spot on macula. No hepatosplenomegaly. A HEX on the people.

32
Q

Krabbe disease

A

Galactocerebrosidase. Krabby Krabbe left with leftover sugar (Galactose). AR. Peripheral neuropathy, dvpt delay.

33
Q

Metachromatic leukodystrophy

A

Arylsulfatase. Central and peropheral demyelination with ataxia, dementia.

34
Q

Hurler syndrome

A

alpha-L-iduronidase. AR. Heparan sulfate. Dvpt delay, gargoylism, airway, corneal.

35
Q

Hunter syndrome

A

iduronate sulfatase. Mild hurler + aggressive.

36
Q

Carinitine deficiency?

A

Carnitine shuttle is required to move LCFA’s into mitochondria to be broken down. W/o carnitine, accumulated LCFA’s –> cardiomyopathy, myopathy, encephelopathy, fasting hypoglycemiaPrimary - carnitine palmitoyltransferases I or IICPT-I is inhibited by malonyl-CoA

37
Q

Ketogenesis

A

Only occurs in mitochondria of liver cells with lots of acetyl-CoA present. Acetoacetate and 3-hydroxybutyrate can be used peripherally. Acetone, cannot, and leaves via lungs (fruity odor)

38
Q

Kcal per protein, carb, fat?

A

4,4,9.

39
Q

How much time does it take to deplete glycogen?

A

1 day

40
Q

Starvation days 1-3:

A

Hepatic glycogenolysis, adipose release of FFA, muscle and liver use FFA, hepatic gluconeogenesis

41
Q

Starvation >3days

A

Adipose stores mostly. Ketone bodies dominate brain energy source. Afterwards, vital protein degradation accelerates.

42
Q

Key enzymes of lipid transport?

A

Pancreatic lipase - degrades dietary TG’s in small intestineLipoprotein lipase - degrades TG’s in chylo and VLDL’s. Found on vasculature.Hepatic TG lipase - degrades TG’s in IDLHormone-sensitive lipase - degrades TG in adipocytesLCAT - catalyzes esterification of cholesterol (makes nascent HDL -> mature HDL)CETP - transfers cholesterol esters from mature HDL to other lipoproteins

43
Q

Main purpose of Chlyomicrons, VLDL, LDL, HDLs

A

Chylos take dietary lipid to tissues. VLDL’s deliver hepatic TG’s to peripherals. LDL delivers hepatic cholesterol to peripheral tissues (receptor-mediated endocytosis). HDL takes excess tissue cholesterol back to liver.

44
Q

Major apolipoproteins

A

E - remnant uptakeA-I - activates LCATC-II - lipoprotein lipase cofactorB-48 - chylomicron secretionB-100 - binds LDL receptor

45
Q

Familial dyslipidemias

A

I - hyperchylomicronemia. AR. Lipoprotein lipase deficiency or altered C-II. Pancreatitis, hepatosplenomeg, xanthomas.IIa - familial hypercholesterolemia. AD. LDLR. Heteros have chol 300, homozys with 700+. Acc. atherosclerosis, tendon xanthomas, corneal arcusIV - hypertriglyceridemia. AD. Overproduction of VLDL. Pancreatitis.

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