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MCM Block 1 > Important Diseases > Flashcards

Important Diseases Flashcards

1
Q

Hartnup Disease

A

Nonpolar AA absorption (Trp)

Causes photosensitive rashes and Niacin B3 deficiency

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2
Q

CP

A

Movement disorder

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3
Q

Maple Syrup Urine Disease

A 
BCAA malabsorption (Leu,Val,Ile)
Sweet urine smell, lethargy
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4
Q

Phenylketonuria

A

Phenylalanine hydroxylase deficient
Phenylacetate and Phenyllactate buildup
Musty urine, intellectual disorders

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5
Q

Albinism

A

Tyrosinase deficiency

Complete lack of melanin

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6
Q

CF

A

Defective Cl- transporter (CFTR)
Causes Na+ and H2O to enter cell
Thick airway mucous, disease prone, difficulty breathing

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7
Q

Fanconi Bickel

A

Defective GLUT2

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8
Q

Von Gierke

A

Defective G6Pase causes poor free Glc release

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9
Q

GSD0

A

Glycogen synthase deficiency

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10
Q

Pompe

A

Acid maltase deficiency
Only disorder treatable with ERT
Lysosomal glycogen buildup

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11
Q

Cori

A

a-1,6 glucosidase deficiency

Lots of short branches left in glycogenolysis

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12
Q

Andersen

A

Glucosyl 4:6 transferase deficiency
Overly long branches in glycogenesis
Difficulty debranching in glycogenolysis

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13
Q

McArdle

A

Muscle glycogen phosphorylase deficiency

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14
Q

Hers

A

Liver glycogen phosphorylase deficiency

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15
Q

MCAD Deficency

A

Causes buildup of C8 FA in liver and carnitine deficiency

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16
Q

Adenosine Deaminase issues

A

Overproduction: hemolytic anemia
Underproduction: SCID

17
Q

Gout

A

Uric acid crystal buildup

Treat with allopurinol

18
Q

HGPRT deficiency

A

Lesch Nyhan syndrome

Severe mental retardation, gout, self mutilation

19
Q

Galactosemia

A

GALT Deficiency

Failure to thrive and liver failure -> jaundice

20
Q

Galactokinase deficiency

A

Galactitol buildup

Causes cataracts and hepatomegaly

21
Q

Hyperhomocysteinemia or homocystinuria

A

Caused by vitamin deficiency (B6,B9,B12) or Cystathione B-synthase deficiency

Effects eyes, bones, CNS and cardiovascular

MCM Block 1 (3 decks)

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