Biochemical Disorders

Question 1

Chronic granulomatous disease

Answer 1

NADPH oxidase

Question 2

Diabetes mellitus

Answer 2

Insulin

(Increased: Glucose level, glucosuria, and possible ketogenesis

Question 3

Galactokinase deficiency

Answer 3

Galactokinase

Increased galactose in the urine

Question 4

Homocystinuria

Answer 4

Cystathione synthetase

Increased homocystine in urine

Question 5

Phenylketonuria

Answer 5

Phenylalanine hydroxylase

(Must eliiminate phenylalanine from diet;
Must be include tyrosine in diet)

Question 6

Alkaptonuria

Answer 6

Homogentisate oxidase

Darkened urine when standing

Question 7

Carbamoyl phosphate synthetease deficiency

Answer 7

Carbamoyl phosphate synthetase

Hyperammonemia

Question 8

Ornithine transcarbamoylase deficiency

Answer 8

Ornithine transcarbamoylase

Hyperammonemia, orotic aciduria

Question 9

Argininemia

Answer 9

Argininosuccinase

Increase urine excretion of Argininosuccinate

Question 10

Maple syrup urine disease

Answer 10

Keto acid dehydrogenase

Increased urine ketoacids [branched chain A.A.’s] and sweet smell of urine

Question 11

Von Gierke’s

Answer 11

Glucose-6-phosphatase

Hepatic glycogenosis

Question 12

Cori’s

Answer 12

Debranching enzyme, amylo-1,6-glucosidase

Limit dextrinosis

Question 13

McArdle’s

Answer 13

Muscle phosphorylase

Increased glycogen

Question 14

Hers

Answer 14

Liver phosphorylase

Increased glycogen

Question 15

Phosphorylase b kinase deficiency

Answer 15

Liver phosphorylase b kinase

Question 16

Familial hypercholesterolemia

Answer 16

LDL receptors mutated

Increased cholesterol

Question 17

Familial lipoprotein lipase deficiency

Answer 17

Lipoprotein lipase

Increased chylomicron TG

Question 18

Familial LCAT deficiency

Answer 18

Lecithin:cholesterol acetyltransferase

Question 19

Tangier’s disease

Answer 19

Defective HDL synthesis

Increased cholesterol; decreased HDL level

Question 20

Familial dysbetalipoproteinemia

Answer 20

Apo E 3

Question 21

Abetalipoproteinemia

Answer 21

Defective synthesis of Apo-B lipid complex

Question 22

Hunter’s

Answer 22

Iduronate sulfatase

Mental and physical retardation
[No corneal clouding]

Question 23

Scheie’s

Answer 23

αL-iduronidase

Joint degeneration, cornal clouding
[No retardation]

Question 24

Hurler’s

Answer 24

αL-iduronidase

Mental and physical retardation, corneal clouding, early death

Question 25

Sanfilippo's | 4 types

Answer 25

Type A: N-sulfatase Type B: N-acetlyglucosaminidase Type C: N-acetyl CoA: α-glucosamine-acetyltransferase Type D: N-acetyl-α-D-glucosamine-6-sulfatase (Severe mental retardation; "Type III mucopolysaccharidosis")

Question 26

GM1-gangliosidosis

Answer 26

β-gangliosidase A

Question 27

Tay-Sachs disease

Answer 27

Hexosaminidase A (Retardation, early death, Cherry-red spots from deposits of N-acetylgalactosamine in the retina and brain. GM2 gangliosides)

Question 28

Gaucher's

Answer 28

Glucocerebrosidase

Question 29

Niemann-Pick's

Answer 29

Sphingomyelinase | Also, Cherry-red spots

Question 30

Fabry's

Answer 30

α-galactosidase A | Skin and kidney accumulation of ceramide trisaccharides

Question 31

Lesch-Nyhan Syndrome

Answer 31

HGPRT (Totally absent) (Gout, mental retardationn, self-destruction, increased serum urate, phosphoribosylpyrophosphate [PRPP], hypoxanthine)

Question 32

Gout

Answer 32

HGPRT is decreased | Urate crystals

Question 33

ADA deficiency

Answer 33

Adenosine deaminase | Severe Combined Immunodeficiency disease [SCID]

Question 34

Orotic aciduria

Answer 34

Orotate phosphoribosyl transferase | Megaloblastic anemia, increased urine excretion of orotate

Question 35

Xeroderma Pigmentosum

Answer 35

UV endonuclease | Skin damage from sun exposure

Question 36

Wilson's disease

Answer 36

Ceruloplasmin | Increased serum copper, Hepatolenticular degeneration, dermatitis

Question 37

Acute intermittent porphyria

Answer 37

Porphobilinogen deaminase (Increased δ-ALA

Question 38

Crigler-Najjar syndrome

Answer 38

Hepatic bilirubin-UDP-glucoronyl transferase | Jaundice, hyperbilirubinemia, (unconjugated) irreversible brain damage may occur

Question 39

Hemosiderosis

Answer 39

Excessive iron storage

Question 40

Sickle cell anemia

Answer 40

Point mutation that substitutes valine for glutamate at position 6 on β-chains in hemoglobin (Hemolysis, ulcers, infarcts of bone and spleen, autosplenectomy)

Question 41

Thalassemia

Answer 41

α- and β-hemoglobin chains | Hemoglobinopathy

Question 42

Ehler-Danlos syndrome

Answer 42

Lysyl oxidase, lysyl hydroxylase | Collagen defects

Question 43

Classic hemophilia

Answer 43

Factor VIII | Blood coagulation problems, bleeding

Question 44

Christmas disease

Answer 44

Factor IX | Blood coagulation problems, bleeding

Question 45

I-Cell disease | Inclusion cell disease

Answer 45

Mannose phosphorylation is decreased | Skeletal abnormality, childhood death