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Digging Up The Bones - Biochemistry > Biochemical Disorders > Flashcards

Biochemical Disorders Flashcards

1
Q

Chronic granulomatous disease

A

NADPH oxidase

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2
Q

Diabetes mellitus

A

Insulin

(Increased: Glucose level, glucosuria, and possible ketogenesis

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3
Q

Galactokinase deficiency

A

Galactokinase

Increased galactose in the urine

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4
Q

Homocystinuria

A

Cystathione synthetase

Increased homocystine in urine

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5
Q

Phenylketonuria

A

Phenylalanine hydroxylase

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

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6
Q

Alkaptonuria

A

Homogentisate oxidase

Darkened urine when standing

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7
Q

Carbamoyl phosphate synthetease deficiency

A

Carbamoyl phosphate synthetase

Hyperammonemia

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8
Q

Ornithine transcarbamoylase deficiency

A

Ornithine transcarbamoylase

Hyperammonemia, orotic aciduria

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9
Q

Argininemia

A

Argininosuccinase

Increase urine excretion of Argininosuccinate

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10
Q

Maple syrup urine disease

A

Keto acid dehydrogenase

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

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11
Q

Von Gierke’s

A

Glucose-6-phosphatase

Hepatic glycogenosis

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12
Q

Cori’s

A

Debranching enzyme, amylo-1,6-glucosidase

Limit dextrinosis

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13
Q

McArdle’s

A

Muscle phosphorylase

Increased glycogen

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14
Q

Hers

A

Liver phosphorylase

Increased glycogen

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15
Q

Phosphorylase b kinase deficiency

A

Liver phosphorylase b kinase

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16
Q

Familial hypercholesterolemia

A

LDL receptors mutated

Increased cholesterol

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17
Q

Familial lipoprotein lipase deficiency

A

Lipoprotein lipase

Increased chylomicron TG

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18
Q

Familial LCAT deficiency

A

Lecithin:cholesterol acetyltransferase

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19
Q

Tangier’s disease

A

Defective HDL synthesis

Increased cholesterol; decreased HDL level

20
Q

Familial dysbetalipoproteinemia

A

Apo E 3

21
Q

Abetalipoproteinemia

A

Defective synthesis of Apo-B lipid complex

22
Q

Hunter’s

A

Iduronate sulfatase

Mental and physical retardation
[No corneal clouding]

23
Q

Scheie’s

A

αL-iduronidase

Joint degeneration, cornal clouding
[No retardation]

24
Q

Hurler’s

A

αL-iduronidase

Mental and physical retardation, corneal clouding, early death

25
Q

Sanfilippo’s

4 types

A

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”)

26
Q

GM1-gangliosidosis

A

β-gangliosidase A

27
Q

Tay-Sachs disease

A

Hexosaminidase A

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

28
Q

Gaucher’s

A

Glucocerebrosidase

29
Q

Niemann-Pick’s

A

Sphingomyelinase

Also, Cherry-red spots

30
Q

Fabry’s

A

α-galactosidase A

Skin and kidney accumulation of ceramide trisaccharides

31
Q

Lesch-Nyhan Syndrome

A

HGPRT
(Totally absent)

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

32
Q

Gout

A

HGPRT is decreased

Urate crystals

33
Q

ADA deficiency

A

Adenosine deaminase

Severe Combined Immunodeficiency disease [SCID]

34
Q

Orotic aciduria

A

Orotate phosphoribosyl transferase

Megaloblastic anemia, increased urine excretion of orotate

35
Q

Xeroderma Pigmentosum

A

UV endonuclease

Skin damage from sun exposure

36
Q

Wilson’s disease

A

Ceruloplasmin

Increased serum copper, Hepatolenticular degeneration, dermatitis

37
Q

Acute intermittent porphyria

A

Porphobilinogen deaminase

(Increased δ-ALA

38
Q

Crigler-Najjar syndrome

A

Hepatic bilirubin-UDP-glucoronyl transferase

Jaundice, hyperbilirubinemia, (unconjugated) irreversible brain damage may occur

39
Q

Hemosiderosis

A

Excessive iron storage

40
Q

Sickle cell anemia

A

Point mutation that substitutes valine for glutamate at position 6 on β-chains in hemoglobin

(Hemolysis, ulcers, infarcts of bone and spleen, autosplenectomy)

41
Q

Thalassemia

A

α- and β-hemoglobin chains

Hemoglobinopathy

42
Q

Ehler-Danlos syndrome

A

Lysyl oxidase, lysyl hydroxylase

Collagen defects

43
Q

Classic hemophilia

A

Factor VIII

Blood coagulation problems, bleeding

44
Q

Christmas disease

A

Factor IX

Blood coagulation problems, bleeding

45
Q

I-Cell disease

Inclusion cell disease

A

Mannose phosphorylation is decreased

Skeletal abnormality, childhood death

Digging Up The Bones - Biochemistry (1 decks)

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