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USMLE Step 1 - Buzz Words > Enzyme Deficiencies > Flashcards

Enzyme Deficiencies Flashcards

1
Q

Homogenistic Acid Oxidase

A

Alkaptonuria / Ochronosis

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2
Q

Defective amino acid transporters in intestinal and renal epithelial cells

A

Hartnup disease

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3
Q

Niacin deficiency

3Ds?

A

Diarrhea, Dementia, Dermatitis

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4
Q

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

A

Cystinuria / Cystine Kidney Stones

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5
Q

Cystathionine synthase

A

Homocystinuria

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6
Q

Homocysteine methyltransferase

A

Homocystinuria

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7
Q

Glutamic Acid Decarboxylase

A

DM Type 1

because of islet antibodies directed to glutamic acid decarboxylase

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8
Q

Deficiency of Hypocretin

A

Narcolepsy

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9
Q

Increased CSF 5-Hydroxyindole-acetic acid

A

Increased impulsive, destructive behaviors particularly aggression, suicide and violence

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10
Q

Increased 14-3-3 Protein

A

Creutzfeld-jakob Disease

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11
Q

Increased Homovanillic Acid

A

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

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12
Q

Decreased Homovanillic Acid

A

Parkinson Disease

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13
Q

Glucoronyl transferase

A

Gilbert Syndrome

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14
Q

Porphpobilinogen deaminase

A

Intermittent porphyria

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15
Q

Pyruvate kinase

A

Hemolytic Anemia

Inc 23 Bpg

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16
Q

Uroporphyrinogen decarboxylase

A

Porphyria cutanea tarda

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17
Q

Inhibition of Aminoluvinelic acid dehydratase

A

Lead Toxicity

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18
Q

Inhibition of ferrochelatase

A

Lead Toxicity

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19
Q

Increased protoporphyrin levels

bound to zinc

A

Lead toxicity

20
Q

Procollagen peptidase

deficiency

A

Ehlers-Danlos Syndrome

21
Q

Pyruvate Dehydrogenase Deficiency

A

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

22
Q

Aldolase B deficiency

A

Fructose metabolism problem

Hyperbilirubinemia, lethargy, hypoglycemia, hyperuricemia

23
Q

Fructokinase

A

Benign fructose metabolism deficiency

24
Q

Glucose 6 Phosphatase deficiency

A

von Gierke’s

glycogen storage disease type 1

25
Q

Lysosomal a 1,4-glucosidase enzyme

A

Pompe’s

Glycogen Storage Disease Type 2

26
Q

Glycogen debranching enzyme

A

Cori’s

Glycogen Storage Disease Type 3

27
Q

Glycogen branching enzyme

A

Andersen’s

Glycogen Storage Disease Type 4

28
Q

Skeletal Muscle Glycogen Phosphorylase

A

McArdle’s

Glycogen Storage Disease Type 5

29
Q

Hepatic Glycogen Phosphorylase

A

Hers

Glycogen Storage Disease Type 6

30
Q

Hexosaminidase A

A

Tay Sachs
Cherry Red Spot in the Macula

GM2 Ganglioside –> gm3 ganglioside

31
Q

B Glucocerebrosidase

A

Gaucher’s
Bone erosions, Crumpled Paper inclusions

Glucocerbroside –> ceramide

32
Q

Alpha galactosidase A

A

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

Ceramide trihexoside –> glucocerbroside

33
Q

Sphingomyelinase

A

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

Sphingomyelin –> ceramide

34
Q

Galactocerbrosidase

A

Krabbe
Optic atrophy, globoid cells, developmental delays

Galactocerebroside –> Ceramide

35
Q

Arylsulfatase A

A

Metachromatic Leukodystrophy
central and peripheral demyelination, ataxia, dementia

Sulfatides –> Galactocerbroside

36
Q

Ganglioside GM 2

A

Accumulates in Tay Sachs

37
Q

Glucocerebroside

A

Accumulates in Gaucher’s

38
Q

Sphingomyelin

A

Accumulates in Niemann Pick

39
Q

Ceramide trihexoside

A

Accumulates in Fabry’s

40
Q

Galactocerebroside

A

Accumulates in Krabbe’s

41
Q

Cerebroside sulfate

A

Accumulates in Metachromatic Leukodystrophy

42
Q

Phenylalanine hydroxylase

A

Phenylketonuria

43
Q

Branched-chain ketoacid dehydrogenase

A

Maple Syrup Urine Disease

44
Q

INC Methylcitrate and hydroxyproprionate

A

seen in neonatal ketoacidosis

45
Q

Proprionyl-Coa Carboxylase

A

Neonatal Ketoacidosis

Propionyl-coA –> methylmalonyl coa

USMLE Step 1 - Buzz Words (6 decks)

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