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Medical Genetics > SectionIIG > Flashcards

SectionIIG Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

Mutations in the gene encoding what enzyme is resposible for classic galactosemia?

A

-mutations in galactose-1-phosphate uridyl transferase (GAL-1-P uridyl transferase)

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2
Q

What does dysfunction of GAL-1-P uridl transferase cause?

A
  • inability to convert galactose to glucose
  • galactose is instead converted to galactilol and galactonate
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3
Q

What are the symptoms of classic galactosemia?

A
  • failure to thrive
  • Jaundice (hepatic insufficiency)
  • cataracts
  • later groeth failure mental retardation
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4
Q

What is the tratment goal fo classic galactosemia?

A

-reduce the amout of dietary galactose

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5
Q

What enzyme is difficient in Von Gierk’s disease?

A

-glucose-6-phosphatase

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6
Q

What are the results of a loss of function in g-6-phosphatase?

A
  • no breakdown of glycogen in the liver
  • leads to hepatomegly and hypoglycemia
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7
Q

What enzyme is deficient in hereditary fructose intolerance?

A

-fructose 1,6-bisphosphate

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8
Q

When is HFI usually noticed? What are the symptoms?

A

When the child is weaned from breast feeding to some kind of fruit (JUICE IS A BUZZWORD)

-poor feeding, failure to thrive, hepatic and renal insufficiency

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9
Q

What is the best mode of treatment for HFI?

A

limit the intake of fructose!

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10
Q

What enzyme is defective in penylketonuria (PKU)?

A

-Phenylalanine hydroxylase

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11
Q

What is the most important factor in diagnosis of PKU?

A

Early detection in order to prevent mental retardation.

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12
Q

What does the excess phenyalanine in PKU do to the CNS?

A

-It disrupts myelination, and protein synthesis

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13
Q

What enzyme is difficient in MSUD? What is the result?

A
  • defect in branched chain alpha-ketoacid dehydrogenase which leads to and accumulation of branched chain amino acids.
  • lead to neurodegeneration
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14
Q

What is the treatment of MSUD?

A

dietary restriction of BCAAs

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15
Q

What can be administered to boost the activity of BCKAD?

A

Thiamine

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16
Q

What is deficient in MCAD dificiency and what is the result?

A
  • medium chain acyl-coenzyme A dehdrogenase (MCAD)
  • results in a buildup of fatty acid intermediates during fasting which has profound effects on the CNS.
  • results in episodeic hypoglycemia after a fast.
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17
Q

What is the treatment for an MCAD dificiency?

A

-avoidance of fasting.

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18
Q

What enzyme is dificient in congenital adreanal hyperplasia (CAH)?

A

21-hydroxylase

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19
Q

What is the major effect in CAH?

A

the block in corticosteroid synthesis will lead to:

  • virulization of females in urtero
  • salt loss form causes weight loss, lethargy and dehydration in males
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20
Q

Why does CAH cause hyponatremia and androgen production?

A
  • loss of 21-hydroxylase sends cortisol precusors down other pathways resulting in production of androgens.
  • lack of aldosterone production results in a lack of Na+ reuptake in the kidneys which causes hypokalemia, hyponatremia, and therefore renal crisis.
21
Q

What is the treatment for CAH?

A

-replace that Cortisol!

22
Q

What are the symptoms of Zellwegger Disorder?

A

-neonatal hypotonia, progressive white matter disease, distinctive face, death in infancy

23
Q

What causes most lysosomal disorders?

A

enzyme deficiencies

24
Q

What is the cause of MPS (mucopolysaccharidoses) disorders?

A

-reduced ability to degrade glycosaminoglycans

25
Q

What is the inheritance pattern for MPS disorders? What is the exception?

A
  • All MPS disorders are autosomal recessive
  • Except for hunter syndrome: X-linked recessive
26
Q

Degredation of what glycosaminoglycans is reduced in MPS disorders?

A
  • heparin sulfate
  • dermatan sulfate
  • keratan sulfate
  • chondroitin sulfate
27
Q

What are characteristic symptoms of all of the MPS disorders?

A
  • chronic and prgressive multisystem deterioration
  • hearing, vision, jiont and cardiovascualr dysfunction
28
Q

What enzyme is dificient in hurler syndrome? What is the presentation?

A
  • Iduronidase deficiency.
  • Growth deficiency and coarse face
29
Q

What defines sphingolipidoses?

A

-a lysosomal storage disease in which spingolipid degredation is deficient

30
Q

What are well known sphingolipidoses?

A

Gaucher disease, Tay-Sachs, Neimann-Pick

31
Q

What enzyme is deficient in gaucher disease?

A

-Beta-glucosidase

32
Q

What enzyme is dificient in Tay-sachs disease?

A

-Beta-hexosaminidase

33
Q

What enzyme is deficient in Neimann-pick disease?

A

-Sphingomyelinase

34
Q

What are the symptms of gaucher disease?

A

Visceromegaly, multiorgan failure, debilitating skeletal disease.

35
Q

What are symptoms common to Urea Cycle disorders?

A

-progressive lethargy and coma

36
Q

What are the four enzymes were deficiencies can cause similar symptoms?

A

-Carbamoyl phosphate synthetase (CPS)

-ornithine transcarbamylase (OTC)

  • argininosuccinic acid synthetase (ASA)
  • Argininosuccinase (AS)
37
Q

What is the most common urea cycle disorder and what is its inheritance pattern?

A
  • OTC dificiency
  • X-linked recessive
  • women can be a symtomatic carrier.
38
Q

What causes cystinuria?

A

-defect in the dibasic amino acid transporter in the GI tract in renal tubiles

39
Q

What gene is mutated in typeI cystinuria? TypeII and III?

A
  • SLC3A1
  • SLC7A9
40
Q

What are the clinical effects of high levels of insoluble cystine?

A

-renal calculi, infection, hypertension and renal failure

41
Q

What gene is mutated in Wilson Disease?

A

-ATP7B

42
Q

What is the major defective process in Wilson disease?

A

-copper excretion into the biliary tract

43
Q

What symptom of Wilson disease is observed in 95% of patients and 100% of patients who have neurologic deficits?

A

-Kayser-Fleischer ring

44
Q

What is the treatment to chelate copper in WND?

A

Penicillamine and ammonium tetrathiomolybdate

45
Q

What is the diagnostic test of choice for Hereditary Hemochromatosis? (HH)

A

-Liver biopsy with hemosiderin staining

46
Q

What is defective in HH?

A

-regulation of iron transport. (too much uptake and too much storage)

47
Q

What are the symptoms and treatment options for HH?

A
  • fatigue, diminished libido, diabetes, increased skin pigment, cardiomyopathy, liver enlargement, and cirrhosis
  • serial phlebotomy and iron chelating agents
48
Q

What gene is mutatued in HH?

A

HFE

49
Q
A

Medical Genetics (10 decks)

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