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Biochem > Block 2 Dieases > Flashcards

Block 2 Dieases Flashcards

1
Q

Arsenite poisoning

A

binds lipoic acid
interferes with E2 of pyruvate dehyrogenase and to alpha-ketoglutarate DH, inhibits gluconeogenesis
build-up of pyruvate and then lactate

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2
Q

von Gierke disease enzyme

A

glucose 6-phosphatase

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3
Q

von Gierke features

A

liver and kidney glycogen accumulation, doll-like facial features, thin extremities, short stature, protuberant abdomen, PCOS in untreated females
lactic acidosis, hyperlipidemia, hypoglycemia

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4
Q

Pompe disease enzyme

A

lysosomal hydrolase (debranching enzyme, 4:4 transferase and 1:6 glucosidase)

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5
Q

Pompe disease features

A

lysosomal glycogen accumulation
juvenile-onset hypoglycemia, muscle hypotonia, heart failure, cardiomegaly, floppy baby syndrome
adult-onset: muscular dystrophy

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6
Q

McArdle disease enzyme

A

muscle glycogen phosphorylase

NORMAL GLYCOGEN STRUCTURE

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7
Q

McArdle disease features

A

poor exercise tolerance, high m. glycogen, blood lactate low after exercise, burgundy urine

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8
Q

Hers disease enzyme

A

liver glycogen phosphorylase

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9
Q

Hers disease features

A

hepatomegaly, liver glycogen accumulation, mild hypoglycemia, good prognosis

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10
Q

Forbe/Cori disease enzyme

A

liver and muscle debranching enzyme
=limit dextrinosis
ABNORMAL GLYCOGEN STRUCTURE

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11
Q

GSD (Glycogen Storage Disease) Type 0 enzyme

A

glycogen synthase

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12
Q

GSD (Glycogen Storage Disease) Type 0 features

A

hyperketonemia, hypoglycemia, early death

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13
Q

G6PD deficiency features

A

neonatal jaundice, acute hemolytic anemia, Heinz bodies (cross-linked, denatured proteins)

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14
Q

G6PD deficiency

A

X-linked

inability to carry out PPP prevents formation of NADPH, cannot regenerate GSH (glutathione, req. NADPH) to cope with ROS

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15
Q

Fructosuria enzyme

A

fructokinase

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16
Q

Fructosuria features

A

autosomal recessive

fructose accumulation in urine, benign

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17
Q

HFI, Hereditary Fructose Intolerance enzyme

A

aldolase B

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18
Q

HFI features

A

trapping of F1P, no phosphate produced
severe hypoglycemia, vomiting, jaundice, hepatomegaly, hemorrhage, hyperuricemia, lactic acidemia, hemorrhage
cannot metabolize fructose, sucrose, or sorbitol

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19
Q

Type I galactosemia enzyme

A

GALT, galactose 1-P uridyltransferase

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20
Q

Type I galactosemia features

A

classic type
response to lactose/galactose: vomiting, diarrhea, jaundice, liver damage, severe mental retardation, cataracts, ovarian failure

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21
Q

Type II galactosemia enzyme

A

GALK, galactokinase

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22
Q

Type II galactosemia features

A

lactose/galactose response: cataracts, galactosuria, no long-term complications

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23
Q

Type III galactosemia enzyme

A

GALE, UDP-hexose 4-epimerase

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24
Q

Type III galactosemia features

A

relatively benign, usually only affects red and white blood cells unless rare form ~Type I

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25
Q

Hunter syndrome GAGs build-up

A

dermatan sulfate and heparan sulfate

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26
Q

Hunter syndrome features

A

X-LINKED !

NO corneal clouding, physical deformity, mental retardation

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27
Q

Hurler syndrome GAGs build-up

A

dermatan sulfate and heparan sulfate

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28
Q

Hurler syndrome features

A

autosomal recessive

CORNEAL CLOUDING, dwarfing, hearing loss, upper airway obstruction, coronary artery deposition–>death

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29
Q

San Filippo syndrome GAGs build-up

A

heparan sulfate

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30
Q

San Filippo syndrome features

A

autosomal recessive
4 types
severe nervous system disorders, mental retardation

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31
Q

Sly syndrome GAGs build-up

A

dermatan sulfate and heparan sulfate

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32
Q

Sly syndrome features

A

autosomal recessive

CORNEAL CLOUDING, hepatosplenomegaly, skeletal deformity, short stature, mental deficiency

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33
Q

I-cell disease pathology

A

INCLUSION bodies of improperly processed N-linked glycoproteins meant as lysosomal enzymes–>exported out of cell
inability to phosphorylate mannose and address glycoprotein to lysosome
deficiency of hydrolytic enzymes in lysosomes

34
Q

I-cell disease features

A

skeletal abnormalities, joint restriction, coarse facial features, severe psychomotor problems, death by age 10

35
Q

Steatorrhea cause

A

lipid malabsorption

36
Q

Cystic fibrosis defect

A

CFTR gene mutation

folding defect and degradation of protein ERAD leads to non0functional chloride channels on all epithelial cells

37
Q

Cystic fibrosis features

A

pancreatic insufficiency, thickened pancreatic secretions prevent lipases from reaching intestine, rely on gastric lipase

38
Q

Orlistat function

A

anti-obesity drug

competitive inhibitor for pancreatic and gastric lipases

39
Q

Chylomicronemia

A

build-up of chylomicrons, result from lipid malabsorption

40
Q

Type I hyperlipoproteinemia (familia lipoprotein lipase deficiency) deficiency

A

APOC2 deficiency leads to non-functional lipoprotein lipase (cofactor)

41
Q

Type III hyperlipoproteinemia (familial dysbetalipoproteinemia) deficiency

A

APOE deficiency, inability to synthesize chylomicrons (deficient core protein)

42
Q

Hyperlipoproteinemia features

A

pancreatitis, neuralgias, xanthomas, chylomicronemia

43
Q

Ezetimibe function

A

lowers cholesterol

binds to NPC1L, carrier protein for cholesterol transport

44
Q

Mucopolysaccharidoses

A

Hunter, Hurler, San Filippo, Sly syndromes

45
Q

Carnitine deficiency features

A

muscle weakness, cardiomyopathy, acute encephalopathy, hypoglycemia, chronic infections

46
Q

Congenital carnitine palmitoyl transferase (CPT-I or CPT-II) deficiencies pathology

A

prevent carnitine shuttle in fatty acid degradation

47
Q

Peroxisome Biogenesis Disorders (PBDs) pathology

A

interfere with peroxisomal beta-oxidation for very long fatty acid chains

48
Q

Zellweger syndrome pathology

A

Peroxisome Biogenesis Disorder

autosomal recessive

49
Q

adrenoleukodystrophy

A

Peroxisome Biogenesis Disorder

X-linked (Lorenzo’s Oil)

50
Q

Zellweger syndrome features

A

impaired neuronal migration, brain development

51
Q

Adrenoleukodystrophy features

A

mental impairment, motor problems

52
Q

Refsum’s disease deficiency

A

alpha-hydroxylase

prevents alpha-oxidation of fatty acids

53
Q

Refsum’s disease features

A

retinitis pigmentosum, deafness, cerebellar ataxia

54
Q

Hyaline membrane disease pathology

A

low production of DPPC, dipalmitoyl phosphatidyl choline, lung surfactant from PC synthesis (salvage pathway or de novo)

55
Q

Hyaline membrane disease features

A

respiratory distress syndrome

common in premature infants

56
Q

Paroxysmal nocturnal hemoglobinuria pathology

A

deficiency of GPI, glycosyl phosphatidyl inositol, anchoring protein from PI phospholipid synthesis

57
Q

Paroxysmal nocturnal hemoglobinuria features

A

hemolytic disease, loss of protein anchoring–> RBC hemolysis

58
Q

Niemann-Pick disease enzyme

A

sphingomyelinase, loss-of-function mutation

59
Q

Niemann-Pick disease features

A

severe mental retardation, hepatosplenomgaly, death in early adulthood, higher incidence in Ashkenazi Jews

60
Q

Niemann-Pick disease lipid accumulation

A

sphingomyelin

61
Q

Niemann-Pick primary organs

A

brain, liver, spleen

62
Q

Tay-Sachs disease enzyme

A

beta-hexosaminidase A

63
Q

Tay-Sachs lipid accumulation

A

ganglioside GM2

64
Q

Tay-Sachs primary organs

A

brain

65
Q

Sphingolipidoses

A

Tay-Sachs, Gaucher, Fabry (X-linked), Niemann-Pick, Farber

66
Q

Gaucher disease enzyme

A

glucocerebrosidase

67
Q

Gaucher disease lipid accumulation

A

glucocerebroside

68
Q

Gaucher disease primary organs

A

brain, liver, spleen

69
Q

Fabry disease enzyme

A

alpha-galactosidase

70
Q

Fabry disease lipid accumulation

A

ceramide trihexoside

71
Q

Fabry disease inheritance

A

X-linked

72
Q

Farber disease enzyme

A

ceramidase

73
Q

Farber disease lipid accumulation

A

ceramide

74
Q

Farber disease primary organs

A

joints, liver, spleen

75
Q

Fabry disease primary organs

A

kidney

76
Q

MCAD (medium chain-length acyl CoA DH) deficiency pathology

A

decreased fatty acid beta-oxidation leads to lipid build-up

77
Q

MCAD features

A

associated with SIDS and Reye syndrome
severe hypoketotic hypoglycemia
autosomal recessive loss-of-function point mutation

78
Q

Pyruvate dehydrogenase complex deficiency features

A

cerebral lactic acidosis, encephalopathy

79
Q

Thiamine deficiency (TPP, vit B1) features

A

CNS problems, no ATP produced

80
Q

Forbe/Cori disease features

A

fasting hypoglycemia, hepatomegaly in infancy, muscle weakness

Biochem (6 decks)

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