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Biochemistry > Final Exam > Flashcards

Final Exam Flashcards

1
Q

NAcGlu Synth Def

A
  • Problem
    • defect in enz (NAGS) that makes N-acetylglutamate
      • from Glu + Acetyl CoA
    • excess blood ammonia building up
    • carbamoyl phosphate synthetase I not activated
      • inhibit first step of urea cycle
  • Treat
    • Carbamoyl glutamate is an analog that activates CPS1
    • stimulates urea cycle + removal of ammonia
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2
Q

Carbamoyl phosphate synthetase I def

A
  • Problem
    • defect in Carbamoyl phosphate synthetase I
  • Results
    • low urea cycle intermediates
    • high NH3
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3
Q

Ornithine transcarbamoylase def

OTC most common UCD

X linked

A
  • Problem
    • defect in OTC whic forms citrulline
      • from carbamoyl phosphate and ornithine
  • Results
    • high ammonia levels
    • Build up of glutamate and alanine
    • High levels of orotate in urine
  • Treat
    • citrulline
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4
Q

Argininosuccinate synthetase def

Citrullinemia type I

A
  • Problem
    • defect in ASS, enzyme that synthesizes argininosuccinate
      • from citrulline and aspartate
  • Result
    • very high citrulline + NH3 levels
  • Treat
    • arginine
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5
Q

Argininosuccinate lyase def

A
  • Problem
    • defect in ASL, converts argininosuccinate into arginine + fumarate
  • Result
    • high levels of argininosuccinate + NH3
  • Treat
    • arginine
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6
Q

Arginase Def

A
  • Problem
    • defect in arginase
      • hydrolizes arginine into urea + ornithine
  • Result
    • high levels of arginine
    • mild levels of NH3
    • progressive neurologic symptoms
    • seizures
    • stunted growth
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7
Q

Phenylketonuria

A
  • Problem
    • defect in phenylalanine hydroxylase
      • restricts phenylalanine to tyrosine conversion
  • Result
    • drastic IQ reduction
    • seizures
    • mental + behavioral disorders
    • urine has a sweet mouse-like odor
    • small head + low birth weight
  • Treat
    • low phenylalanine diet
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8
Q

Tyrosinemias

A
  • Problem
    • defect in fumarylacetoacetate hydrolase
  • Result
    • high succinyl-acetone in urine
    • cabbage-like odor
    • liver + kidney failure
    • failure to thrive
  • Treat
    • dietary restriction of Phe + Tyr
    • nitisinone
      • build up of non-toxic intermediate instead
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9
Q

Alkaptonuria

A
  • Problem
    • defect in homogentisate 1,2-dioxygenase
  • Results
    • high homogentisate
    • black urine disease
    • tar substance in joints
  • Treat
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10
Q

Cystinosis

AA Metabolism

A
  • Problem
    • defect in transport of cystine out of lysosome
  • Results
    • formation of cystine crystals w.i. lysosome
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11
Q

Cystinuria

A
  • Problem
    • can not properly reabsorb cystine into their bloodstream
    • concentrates in urine
    • Disorder of the proximal tubule’s reabsorption of filtered cysteine and dibasic AA’s (ornithine, arginine, & lysine)
  • Result
    • high cysteine in urine
    • formation of cystine stones in the kidneys, ureter, and bladder
  • Treat
    • hydration + diet mods (decrease methionine intake)
    • chelation agents
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12
Q

Homocystinuria

A
  • Problem
    • defect in cystathionine synthase
      • conversion of methionine - > - > - > cysteine
  • Result
    • high homocysteine in urine
    • highmethionine + metabolites
    • intellectual disabiltiy
    • osteoporosis
    • discoloration of lens
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13
Q

Hartnup disease

A
  • Problem
    • inability to absorb/transport neutral AA such as tryptophan
  • Result
    • low blood tryptophan levels
    • increased urine excretion of tryptophan
    • skin eruptions
    • cerebellar ataxia
    • mental retardation
  • Treat
    • oral hydration
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14
Q

Maple syrup urine disease

A
  • Problem
    • defect in branched chain a-keto acid dehydrogenase
      • BCAA key role in Glu supply
        • major neuro affects
  • Results
    • maple syrup urine odor
    • high leucine levels (toxic)
    • mental and physical retardation
  • Treat
    • low valine, isoleucine, + leucine diet
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15
Q

MCAD

A
  • Problem
    • defect in medium-chain acyl-CoA dehydrogenase
  • Results
    • hypoketotic
      • no fat break down therefore no ketones
    • hypoglycemic
      • glycolysis only
      • build up of acetyl-CoA
        • activates pyruvate carboxylase
    • high levels of MCFA, dicarboxylic acids, acylcarnitines, + acylglycines
    • dicarboxylic acids product of omega oxidation
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16
Q

Primary carnitine deficiency

A
  • Problem
    • defect in a transporter OCTN2
    • impaired transport of LCFA into cells for B-Ox
  • Results​
    • low free carnitine, acylcarnitine, + ketone bodies
    • high free fatty acids
    • hypoketotic, hypoglycemic
  • Treat
    • carnitine
    • low fat diet
    • frequent meals
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17
Q

Zellweger Syndrome

A
  • Problem
    • severe total loss of functional peroxisomes
      • responsible for B-Ox of VLCFA + cholesterol synth
  • Results
    • death w.i. 1st year
    • high VLCFA in blood
    • impaired brain development
    • dysmorphic faces + progressive degeneration of brain, liver, + kidneys
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18
Q

Refsum Disease

A
  • Problem
    • defect in degradation of BCFA
      • partial breakdown of branched-chain fatty acids –> toxic intermediate
  • Results
    • buildup of phytanic acid
    • ataxia
    • scaly skin + skin abnormalities
    • difficulty hearing + eye problems
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19
Q

X-linked adrenoleukodystrophy

A
  • Problem
    • nonfunctional transporter into peroxisome
    • VLCFA can’t get into peroxisome
  • Result
    • hypomyelination in brain
    • adrenocortical insufficiency
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20
Q

Methylmalonic acid

A
  • Problem
    • defect in methylmalonic CoA mutase
      • B12 def
  • Result
    • high methylmalonic acid​
    • mental retardation
      • MMA demyelinates neurons
    • N/V
    • convulsions
  • Treat
    • B12 + diet minimizing Ile, Met, Thr, Val
21
Q

Propionic acidemia

A
  • Problem
    • deficiency of propionyl CoA carboxylase
      • req to breakdown isoleucine, valine, threonine, and methionine
      • converts propionyl-CoA to methylmalonyl-CoA
  • Results
    • failure to thrive
    • hypotonia
    • somnolence
    • seizures
22
Q

Pyruvate dehydrogenase

(lactic aciduria)

A
  • Problem
    • defect in Pyruvate dehydrogenase
      • converts pyruvate in acetyl-CoA
  • Result
    • life-threatening buildup of lactic acid
    • neurological problems
      • develop delays
      • seizures
    • childhood death usually
23
Q

Isovaleric acidemia

A
  • Problem
    • defect in FAD dehydrogenase
      • unable to break down leucine
  • Result
    • urine smells like sweaty feet
    • neuro compromise
    • failure to thrive
24
Q

Multiple carboxylase deficiency

A
  • Problem
    • deficiency of biotinidase
      • obtains biotin form diet
        • carboxylases nonfunctional w.o. biotin
  • Results
    • lethargy
    • seizures
    • developmental delay
    • skin rash
25
Q

Trimethylaminuria

A
  • Problem
    • buildup of trimethylamine due to enz defect
    • inability to break down trimethylamine
  • Result
    • rotting fish odor
      • smells bad
    • social isolation
26
Q

Tay-Sachs

A
  • Problem
    • deficiency in hexosaminidase A
    • high levels of gangliosides
      • inability to degrade ganglioside
  • Results
    • rapid neurodegeneration
    • cherry red macula
    • seizures + weakness
  • Common in Jews
27
Q

Sandhoff Disease

A
  • Problem
    • deficiency in hexosaminidase A + B
    • high levels of globosides
      • inability to degrade globosides
  • Results
    • visceral involvement
    • rapid neurodegeneration
    • cherry red macula
    • seizures + weakness
28
Q

Gaucher Disease

A

Most common LSD

  • Problem
    • glucocerebrosidase deficiency
  • result
    • high glucocerebroside levels in phagocytes
    • phagocyte swelling into Gaucher cells
    • hepatosplenomegaly
    • osteoporosis
    • NO NEURO effects
  • Treat
    • ERT
29
Q

Niemann-Pick A,B,C

A
  • Problem
    • type A + B are defect in sphingomyelinase
      • A is rapid onset
      • B is later onset
    • type C is defect in cholesterol transport out of lysosomes
  • Result
    • high sphingomyelin in brain, liver, spleen
    • intellectual disabilities
    • neurodegeneration in N.P.-A
30
Q

Fabry Disease

X linked

A
  • Problem
    • deficiency in alpha-galactosidase A
    • high levels of globsides
  • Results
    • severe GI disorders
    • red-purple rash
    • kidney + heart failure
    • burning sensations
  • Treat
    • ERT w. fabrazyme
31
Q

Galactosemia

A
  • Problem
    • defect in galactose-1-phosphate uridyltransferase
      • can’t convert Gal-1-P to G-1-P + form UDP-Gal
  • Result
    • lethargy + failure to thrive
    • developmental delays
    • speech problems
    • abnormal motor function
    • females infertile
  • Treat
    • avoid lactose + galactose (dairy + peas)
32
Q

Hereditary fructose intolerance

A
  • Problem
    • defect in aldolase B which breaks down fructose
  • Result
    • build up of Fru-1-P (toxic)
    • vomiting + seizures
    • hepatomegaly + liver dysfunction
  • Treat
    • limit fructose intake
33
Q

Von Gierke

Type I GSD

A
  • Problem
    • defect in hepatic G-6-Phosphatase
  • Reuslts
    • hypoglycemia w. lactic acidosis
    • distended abd due to hepatomegaly
    • poor growth
    • high TG + cholesterol
    • seizures
  • Treat
    • ​​cont infusion of glucose
    • cornstarch
    • freq meals/snacks
34
Q

Pompe

Type II GSD

worst GSD

A
  • Problem
    • Deficiency in lysosomal a-glucosidase
  • Result
    • excessive glycogen in lysosome
    • hypotonia
    • cardiac failure
    • cardiomegaly
    • normal BGL
  • Treat
    • ERT
35
Q

Cori

Type III GSD

A
  • Problem
    • defect in debranching enzyme
  • Results
    • abnormal glycogen structure
    • cardiomyopathy + hypertrophy
    • liver transaminases high
36
Q

Andersen

Type IV GSD

A
  • Problem
    • defect in branching enzyme
      • long linear glycogen polymers
  • Result
    • progressive liver cirrhosis
    • hepatomegaly
    • hypertonia
    • muscle atrophy
    • liver, heart, + skeletal symptoms
37
Q

McArdle Syndrome

Type V GSD

A
  • Problem
    • defect in muscle glycogen phosphorylase
  • Results
    • exercise induced muscle pain + cramps
    • progressive weakness
    • myoglobinuria
    • reduced lactate output
38
Q

Hers Disease

Type VI GSD

A

most common GSD

  • Problem
    • defect in liver phosphorylase
      • relies on gluconeogenesis
  • Results
    • hepatomegaly
    • growth retardation
    • little symptoms
    • slight hypoglycemia
39
Q

Tarui Syndrome

Type VII GSD

A
  • Problem
    • deficiency in PFK1 in skeletal muscle and RBCs
  • Results
    • exercise induced muscle pain + cramps
    • progressive weakness
    • myoglobinuria + reduced lactate output
    • Enzymopathic hemolysis
40
Q

Fanconi-Bickel syndrome

Type XI GSD

A
  • Problem
    • defect in GLUT2
      • glucose/galactose transporter
  • Results
    • glycogen accumulation in liver + kidneys
    • growth retardation
    • rickets
41
Q

3-Methylcrotonyl-CoA carboxylase deficiency

A
  • Problem
    • defect in 3-methylcrotonyl-coenzyme A carboxylase
      • key in degradation of leucine
  • Results
    • build up of toxic leucine byproducts
    • lethargy
    • hypotonia
    • developmental delay
    • seizure
  • Treat
    • protein-restricted diet
    • supp w. glycine + carnitine
42
Q

3-Hydroxy-3-methylglutaric aciduria

HMG-CoA lyase deficiency

A
  • Problem
    • defect in HMG-CoA lyase
      • key in ketogenesis + leucine catabolism
  • Results
    • vomiting + diarrhea + dehydration
    • lethargy
    • hypotonia
    • hypoglycemia
    • metabolic acidosis
  • Treat
    • high carb diet
43
Q

Holocarboxylase synthase deficiency

A
  • Problems
    • unable to add biotin to carboxylase
      • leads to nonfunctional carboxylases
  • Results
    • lethargy
    • hair loss
    • skin rash
  • Treat
    • supp w. biotin
44
Q

β-Ketothiolase deficiency

A
  • Problem
    • deficiency of mitochondrial acetoacetyl-CoA thiolase
      • defect in ketone body + isoleucine metabolism
  • Result
    • loss of mental and motor skills
    • intermittent ketoacidotic episodes
    • high 2-methyl-3-hydroxybutyrate
    • high 2-methylacetoacetate
45
Q

Glutaric acidemia type I

A
  • Problem
    • defect in glutaryl-CoA dehydrogenase
      • breaks down lysine, hydroxylysine, + tryptophan
  • Result
    • high glutaric acid
    • high 3-hydroxyglutaric acid
    • unusually large heads
    • spasms, jerking, rigidity, or decreased muscle tone
  • Treat
    • Protein restriction
    • supp w. carnitine, choline, riboflavin
46
Q

Very long-chain acyl-CoA dehydrogenase deficiency

A
  • Problem
    • defect in VLC acyl-CoA dehydrogenase
  • Results
    • rhabdomyolysis + myoglobinuria
    • hypoglycemia
    • lethargy
    • triggered by periods of fasting, illness, + exercise
47
Q

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

LCHAD

A
  • Problem
    • prevents conversion of fats to energy
  • Results
    • lethargy
    • hypoglycemia
    • hypotonia
    • peripheral neuropathy
48
Q

Trifunctional protein deficiency

A
  • Problems
    • deficiency in mitochondrial trifunctional protein
      • converts LCFA fats to energy
  • Results
    • lethargy
    • hypoglycemia
    • hypotonia
    • liver + heart issues
  • Treat
    • high carb low fat diet
49
Q

Biotinidase deficiency

A
  • Problem
    • defect in biotinidase
      • biotin can’t be cleaved from carboxylase and recycled
  • Results
    • hypotonia
    • ataxia
    • alopecia
  • Treat
    • supp w. biotin

Biochemistry (5 decks)

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