Enzyme Deficiencies Flashcards Preview

USMLE Step 1 - Buzz Words > Enzyme Deficiencies > Flashcards

Flashcards in Enzyme Deficiencies Deck (45):
1

Homogenistic Acid Oxidase

Alkaptonuria / Ochronosis

2

Defective amino acid transporters in intestinal and renal epithelial cells

Hartnup disease

3

Niacin deficiency
3Ds?

Diarrhea, Dementia, Dermatitis

4

Defective renal (PCT) epitheloid transport of cysteine and the basic amino acids lysine, arginine, and ornithin

Cystinuria / Cystine Kidney Stones

5

Cystathionine synthase

Homocystinuria

6

Homocysteine methyltransferase

Homocystinuria

7

Glutamic Acid Decarboxylase

DM Type 1
(because of islet antibodies directed to glutamic acid decarboxylase)

8

Deficiency of Hypocretin

Narcolepsy

9

Increased CSF 5-Hydroxyindole-acetic acid

Increased impulsive, destructive behaviors particularly aggression, suicide and violence

10

Increased 14-3-3 Protein

Creutzfeld-jakob Disease

11

Increased Homovanillic Acid

Psychotic D/o, Substance use D/o, mood d/o

12

Decreased Homovanillic Acid

Parkinson Disease

13

Glucoronyl transferase

Gilbert Syndrome

14

Porphpobilinogen deaminase

Intermittent porphyria

15

Pyruvate kinase

Hemolytic Anemia
Inc 23 Bpg

16

Uroporphyrinogen decarboxylase

Porphyria cutanea tarda

17

Inhibition of Aminoluvinelic acid dehydratase

Lead Toxicity

18

Inhibition of ferrochelatase

Lead Toxicity

19

Increased protoporphyrin levels
(bound to zinc)

Lead toxicity

20

Procollagen peptidase
deficiency

Ehlers-Danlos Syndrome

21

Pyruvate Dehydrogenase Deficiency

Neurological - microcephaly, MR
inc pyruvate and alanine
tx: Keto diet (lysine and leucine)

22

Aldolase B deficiency

Fructose metabolism problem
Hyperbilirubinemia, lethargy, hypoglycemia, hyperuricemia

23

Fructokinase

Benign fructose metabolism deficiency

24

Glucose 6 Phosphatase deficiency

von Gierke's
glycogen storage disease type 1

25

Lysosomal a 1,4-glucosidase enzyme

Pompe's
Glycogen Storage Disease Type 2

26

Glycogen debranching enzyme

Cori's
Glycogen Storage Disease Type 3

27

Glycogen branching enzyme

Andersen's
Glycogen Storage Disease Type 4

28

Skeletal Muscle Glycogen Phosphorylase

McArdle's
Glycogen Storage Disease Type 5

29

Hepatic Glycogen Phosphorylase

Hers
Glycogen Storage Disease Type 6

30

Hexosaminidase A

Tay Sachs
Cherry Red Spot in the Macula

GM2 Ganglioside --> gm3 ganglioside

31

B Glucocerebrosidase

Gaucher's
Bone erosions, Crumpled Paper inclusions

Glucocerbroside --> ceramide

32

Alpha galactosidase A

Fabry's
Burning sensation in hands, angiokeratomas, cloudiness of cornea

Ceramide trihexoside --> glucocerbroside

33

Sphingomyelinase

Niemann-Pick
Hepatosplenomegaly, foamy macrophages, severe MR, cherry red spots in macula; zebra body inclusions

Sphingomyelin --> ceramide

34

Galactocerbrosidase

Krabbe
Optic atrophy, globoid cells, developmental delays

Galactocerebroside --> Ceramide

35

Arylsulfatase A

Metachromatic Leukodystrophy
central and peripheral demyelination, ataxia, dementia

Sulfatides --> Galactocerbroside

36

Ganglioside GM 2

Accumulates in Tay Sachs

37

Glucocerebroside

Accumulates in Gaucher's

38

Sphingomyelin

Accumulates in Niemann Pick

39

Ceramide trihexoside

Accumulates in Fabry's

40

Galactocerebroside

Accumulates in Krabbe's

41

Cerebroside sulfate

Accumulates in Metachromatic Leukodystrophy

42

Phenylalanine hydroxylase

Phenylketonuria

43

Branched-chain ketoacid dehydrogenase

Maple Syrup Urine Disease

44

INC Methylcitrate and hydroxyproprionate

seen in neonatal ketoacidosis

45

Proprionyl-Coa Carboxylase

Neonatal Ketoacidosis

Propionyl-coA --> methylmalonyl coa