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Flashcards in Enzymes Deck (32):
0

Zellweger disease

Pipecolate oxidase

Problem in very long chain fatty acid oxidation (peroxisomes)

1

Panacinar emphysema

Alpha-1 Antitrypsin Deficiency

2

Fabry's disease

Alpha galactosidase A

3

Maple syrup urine disease

Alpha-ketoacid dehydrogenase

Affects the branched-chain amino acids

4

Hurler's disease (MPS Type 1)

Alpha-L-iduronidase

Most severe mucopolysaccharidoses

5

Congenital adrenal hyperplasia

21-Hydroxylase

Most common cause of genital ambiguity

6

Hurler's disease (MPS Type II)

Iduronate sulfatase

Milder form, X-linked

7

SCID

Adenosine deaminase

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

8

Smith-Lemli-Opitz Syndrome

7-Dehydrocholesterol reductase

9

(+) Urine sulfatide test

Metachromatic leukodystrophy

10

Metachromatic leukodystrophy

Aryl sulfatase

11

Farber's disease

Ceramidase/Ceraminidase

12

Periarticular and subcutaneous swellings and progressive arthropathy pertains to

Farber's disease

Affects the JOINTS

13

Homocystinuria

Cystathione synthase

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

14

Hallevorden-Spatz Disease

Enzyme deficient: cystine dioxygenase

Other name: PKAN (Pantothenate Kinase-Associated Neurodegeneration)

Sign: Eye of the tiger sign

15

Gaucher's disease

Glucocerebrosidase

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

16

Glycogen storage disease type 1

Von Gierke's disease

Glucose 6 Phosphate

17

Glycoge storage disease type 2

Acid Maltase/Alpha Glucosidase

Causes cardiomegaly

18

Glycogen storage disease type 3

Cori's disease

Debranching enzyme

19

Glycogen storage disease type 5

McArdle's disease

Muscle phosphorylase/Myophosphorylase

20

Tay Sach's Disease

Hexosaminidase A

Cherry red spot in the macula

21

Sandhoff's disease

Hexosaminidase A and B

Sandpaper has 2 sides

22

Niemann Pick's Disease

Spingomyelinase

"No man picks his nose with his sphinger"

23

San Filippo Disease

Heparan Sulfatase

24

Globoid cell luekodystrophy

Krabbe disease

Beta galactosidase

25

Refsum's disease

Phytanoyl-CoA hydroxylase

Referee (Ref) stops players from fighting (phytanoyl)

26

Menke's disease

Copper dependent enzymes

Kinky or Steely hair disease
Pili torti

27

Lesh Nyhan syndrome

HGPRTase

Self-mutilation + hyperuricemia

28

Phenylketonuria

Phenylalanine hydroxylase
Dihydropteridine redutase

Mousy odor

29

Chronic granulomatous disease

NADH oxidase

Lacks the respiratory burst

30

Alper's disease

Pyruvate dehydrogenase

31

HIV

Reverse transcriptase