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Enzymes Flashcards

0
Q

Panacinar emphysema

A

Alpha-1 Antitrypsin Deficiency

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1
Q

Zellweger disease

A

Pipecolate oxidase

Problem in very long chain fatty acid oxidation (peroxisomes)

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2
Q

Fabry’s disease

A

Alpha galactosidase A

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3
Q

Maple syrup urine disease

A

Alpha-ketoacid dehydrogenase

Affects the branched-chain amino acids

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4
Q

Hurler’s disease (MPS Type 1)

A

Alpha-L-iduronidase

Most severe mucopolysaccharidoses

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5
Q

Congenital adrenal hyperplasia

A

21-Hydroxylase

Most common cause of genital ambiguity

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6
Q

Hurler’s disease (MPS Type II)

A

Iduronate sulfatase

Milder form, X-linked

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7
Q

SCID

A

Adenosine deaminase

Problem is both humoral and cellular immunity
Also known as bubble boy disease

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8
Q

Smith-Lemli-Opitz Syndrome

A

7-Dehydrocholesterol reductase

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9
Q

(+) Urine sulfatide test

A

Metachromatic leukodystrophy

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10
Q

Metachromatic leukodystrophy

A

Aryl sulfatase

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11
Q

Farber’s disease

A

Ceramidase/Ceraminidase

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12
Q

Periarticular and subcutaneous swellings and progressive arthropathy pertains to

A

Farber’s disease

Affects the JOINTS

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13
Q

Homocystinuria

A

Cystathione synthase

Can present with subluxation of the lenses (along with Marfan’s presenting with Ectopia Lentis)

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14
Q

Hallevorden-Spatz Disease

A

Enzyme deficient: cystine dioxygenase

Other name: PKAN (Pantothenate Kinase-Associated Neurodegeneration)

Sign: Eye of the tiger sign

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15
Q

Gaucher’s disease

A

Glucocerebrosidase

BM histiocytes (Gaucher cells) ~ crumpled paper/tissue appearance

16
Q

Glycogen storage disease type 1

A

Von Gierke’s disease

Glucose 6 Phosphate

17
Q

Glycoge storage disease type 2

A

Acid Maltase/Alpha Glucosidase

Causes cardiomegaly

18
Q

Glycogen storage disease type 3

A

Cori’s disease

Debranching enzyme

19
Q

Glycogen storage disease type 5

A

McArdle’s disease

Muscle phosphorylase/Myophosphorylase

20
Q

Tay Sach’s Disease

A

Hexosaminidase A

Cherry red spot in the macula

21
Q

Sandhoff’s disease

A

Hexosaminidase A and B

Sandpaper has 2 sides

22
Q

Niemann Pick’s Disease

A

Spingomyelinase

“No man picks his nose with his sphinger”

23
Q

San Filippo Disease

A

Heparan Sulfatase

24
Q

Globoid cell luekodystrophy

A

Krabbe disease

Beta galactosidase

25
Q

Refsum’s disease

A

Phytanoyl-CoA hydroxylase

Referee (Ref) stops players from fighting (phytanoyl)

26
Q

Menke’s disease

A

Copper dependent enzymes

Kinky or Steely hair disease
Pili torti

27
Q

Lesh Nyhan syndrome

A

HGPRTase

Self-mutilation + hyperuricemia

28
Q

Phenylketonuria

A

Phenylalanine hydroxylase
Dihydropteridine redutase

Mousy odor

29
Q

Chronic granulomatous disease

A

NADH oxidase

Lacks the respiratory burst

30
Q

Alper’s disease

A

Pyruvate dehydrogenase

31
Q

HIV

A

Reverse transcriptase

Last Ditch (14 decks)

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