Enzyme Deficiencies

Question 1

Homogenistic Acid Oxidase

Answer 1

Alkaptonuria / Ochronosis

Question 2

Defective amino acid transporters in intestinal and renal epithelial cells

Answer 2

Hartnup disease

Question 3

Niacin deficiency

3Ds?

Answer 3

Diarrhea, Dementia, Dermatitis

Question 4

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

Answer 4

Cystinuria / Cystine Kidney Stones

Question 5

Cystathionine synthase

Answer 5

Homocystinuria

Question 6

Homocysteine methyltransferase

Answer 6

Homocystinuria

Question 7

Glutamic Acid Decarboxylase

Answer 7

DM Type 1

because of islet antibodies directed to glutamic acid decarboxylase

Question 8

Deficiency of Hypocretin

Answer 8

Narcolepsy

Question 9

Increased CSF 5-Hydroxyindole-acetic acid

Answer 9

Increased impulsive, destructive behaviors particularly aggression, suicide and violence

Question 10

Increased 14-3-3 Protein

Answer 10

Creutzfeld-jakob Disease

Question 11

Increased Homovanillic Acid

Answer 11

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

Question 12

Decreased Homovanillic Acid

Answer 12

Parkinson Disease

Question 13

Glucoronyl transferase

Answer 13

Gilbert Syndrome

Question 14

Porphpobilinogen deaminase

Answer 14

Intermittent porphyria

Question 15

Pyruvate kinase

Answer 15

Hemolytic Anemia

Inc 23 Bpg

Question 16

Uroporphyrinogen decarboxylase

Answer 16

Porphyria cutanea tarda

Question 17

Inhibition of Aminoluvinelic acid dehydratase

Answer 17

Lead Toxicity

Question 18

Inhibition of ferrochelatase

Answer 18

Lead Toxicity

Question 19

Increased protoporphyrin levels

bound to zinc

Answer 19

Lead toxicity

Question 20

Procollagen peptidase

deficiency

Answer 20

Ehlers-Danlos Syndrome

Question 21

Pyruvate Dehydrogenase Deficiency

Answer 21

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

Question 22

Aldolase B deficiency

Answer 22

Fructose metabolism problem

Hyperbilirubinemia, lethargy, hypoglycemia, hyperuricemia

Question 23

Fructokinase

Answer 23

Benign fructose metabolism deficiency

Question 24

Glucose 6 Phosphatase deficiency

Answer 24

von Gierke’s

glycogen storage disease type 1

Question 25

Lysosomal a 1,4-glucosidase enzyme

Answer 25

Pompe's | Glycogen Storage Disease Type 2

Question 26

Glycogen debranching enzyme

Answer 26

Cori's | Glycogen Storage Disease Type 3

Question 27

Glycogen branching enzyme

Answer 27

Andersen's | Glycogen Storage Disease Type 4

Question 28

Skeletal Muscle Glycogen Phosphorylase

Answer 28

McArdle's | Glycogen Storage Disease Type 5

Question 29

Hepatic Glycogen Phosphorylase

Answer 29

Hers | Glycogen Storage Disease Type 6

Question 30

Hexosaminidase A

Answer 30

Tay Sachs Cherry Red Spot in the Macula GM2 Ganglioside --> gm3 ganglioside

Question 31

B Glucocerebrosidase

Answer 31

Gaucher's Bone erosions, Crumpled Paper inclusions Glucocerbroside --> ceramide

Question 32

Alpha galactosidase A

Answer 32

Fabry's Burning sensation in hands, angiokeratomas, cloudiness of cornea Ceramide trihexoside --> glucocerbroside

Question 33

Sphingomyelinase

Answer 33

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

Question 34

Galactocerbrosidase

Answer 34

Krabbe Optic atrophy, globoid cells, developmental delays Galactocerebroside --> Ceramide

Question 35

Arylsulfatase A

Answer 35

Metachromatic Leukodystrophy central and peripheral demyelination, ataxia, dementia Sulfatides --> Galactocerbroside

Question 36

Ganglioside GM 2

Answer 36

Accumulates in Tay Sachs

Question 37

Glucocerebroside

Answer 37

Accumulates in Gaucher's

Question 38

Sphingomyelin

Answer 38

Accumulates in Niemann Pick

Question 39

Ceramide trihexoside

Answer 39

Accumulates in Fabry's

Question 40

Galactocerebroside

Answer 40

Accumulates in Krabbe's

Question 41

Cerebroside sulfate

Answer 41

Accumulates in Metachromatic Leukodystrophy

Question 42

Phenylalanine hydroxylase

Answer 42

Phenylketonuria

Question 43

Branched-chain ketoacid dehydrogenase

Answer 43

Maple Syrup Urine Disease

Question 44

INC Methylcitrate and hydroxyproprionate

Answer 44

seen in neonatal ketoacidosis

Question 45

Proprionyl-Coa Carboxylase

Answer 45

Neonatal Ketoacidosis Propionyl-coA --> methylmalonyl coa