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GI > Glycobiology in Human Disease II > Flashcards

Glycobiology in Human Disease II Flashcards

1
Q

Patients with Mucopolysaccharidoses suffer from

A

Skeletal and extracellular matrix deformities

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2
Q

Clinical diagnosis of a mucopolysaccharidosis is confirmed by measuring the patient’s levels of

A

Lysosomal hydrolases

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3
Q

The mucopolysaccharidoses are hereditary diseases caused by a deficiency of any one of the lysosomal hydrolases normally involved in the degradation of

A

Heparin sulfate and/or Dermatan sulfate

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4
Q

Progressive disorders characterized by accumulation of glycosaminoglycans in various tissues, causing a range of symptoms, such as skeletal and extracellular matrix deformities, and mental retardation

A

Mucopolysaccharidoses

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5
Q

Children who are homozygous for any one of these diseases are apparently normal at birth, and then

A

Gradually deteriorate

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6
Q

All mucopolysaccharidoses are autosomal recessive diseases except

A

Hunter Syndrome (X-linked)

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7
Q

Incomplete lysosomal degradation of glycosaminoglycans results in the presence of oligosaccharides in the

A

Urine

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8
Q

These fragments can be used to diagnose the specific mucopolysaccharidosis by identifying the structure present on the nonreducing end of the

A

Oligosaccharide

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9
Q

That is because the residue at the nonreducing end would have been the substrate for the

A

Missing enzyme

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10
Q

Bone marrow and cord blood transplants have been used to treat

A

Hurler and Hunter syndromes

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11
Q

Caused by a defect in alpha-L-iduronidase

-an inherited autosomal recessive disorder

A

Hurler syndrome

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12
Q

Characteristic features of this disease including coarsening of the facial features, corneal clouding, and hepatosplenomegaly appear around age 2 in affected individuals

A

Hurler syndrome

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13
Q

Due to thickening of respiratory secretions, individuals with Hurler syndrome are prone to

A

Recurrent infections

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14
Q

Patients with Hurler syndrome have a markedly shortened lifespan, often dying before the age of

A

10

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15
Q

Caused by a defect in iduronate sulfatase

A

Hunter Syndrome

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16
Q

In contrast to Hurler syndrome, Hunter syndrome is inherited in an

A

X-linked recessive pattern

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17
Q

Additionally, Hunter syndrome typically occurs

A

Later in life

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18
Q

Additionally, Hunter syndrome typically occurs later in life that Hurler syndrome and does not have the cardinal feature of

A

Corneal clouding

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19
Q

Has the key features of intellectual disability, coarse facial features, and short stature

A

Hunter Syndrome

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20
Q

Results from failure of the body to be able to cleave the alpha 1,4 linkage

A

Pompe Disease

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21
Q

The defective degradation of glycogen in the lysosomes seen in Pompe disease is caused by the lack of which enzyme?

A

Lysosomal acid alpha-glucosidase (acid maltase)

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22
Q

The classic infantile form of Pompe disease causes

A

Cardiomegaly, hypotonia, hepatomegaly, and death before 2 due to cardiorespiratory failure

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23
Q

A heterogeneous group of molecules that are hydrophobic

A

Lipids

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24
Q

Allow for fats to be transported both extracellularly and intracellularly

A

Lipoproteins

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25
Q

The main constituent of body fat in the human body

A

TAGs

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26
Q

Serve as a major source of energy for the body

A

Lipids

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27
Q

Lipids can be classified as either

-Depending on their structural backbone

A

Glycerolipids or Sphingolipids

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28
Q

The major consitituents of all cell membranes

A

Glycerophospholipids

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29
Q

Serve to help anchor proteins in the membrane and can play a role in intracellular signaling (e.g., epinephrine activates phospholipase –C)

A

Glycerophospholipids

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30
Q

Other unique functions of glycerophospholipids include playing a role in the composition of

A

Bile, lipoproteins, and lung surfactant

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31
Q

What are the three most abundant glycerophospholipids?

-primary function is structural role in membranes

A

Phosphatidylethanolamine, phosphatidylcholine, and phosphatidylserine

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32
Q

Glycerophospholipids are synthesized in all cells except for

A

Mature erythrocytes

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33
Q

Synthesized in the smooth ER and transported to the Golgi body to be sent to membranes or secreted

A

Glycerophospholipids

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34
Q

This compound can be synthesized de novo from preexisting choline; however, this de novo synthesis is not sufficient for our body’s needs

A

Phosphatidylcholine (Lecithin)

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35
Q

Can be obtained as an essential dietary nutrient in foods such as fish, eggs, broccoli, peanut butter, and milk chocolate

A

Phosphatidylcholine (Lecithin)

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36
Q

Serves as a structural component of membranes, a mild detergent in bile, and as part of a surfactant in the small alveoli of the lungs

A

Lecithin

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37
Q

Impaired production of lecithin can allow for solubilization of hydrophobic compounds in bile, leading to

A

Gallstones

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38
Q

Inadequate production of lecithin allows for alveoli to collapse in the lungs due to too much

A

Surface tension

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39
Q

This collapse is commonly seen in premature infants who are born before there is enough

A

Lecithin produced

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40
Q

Inadequate production of lecithin allows for alveoli to collapse, this is referred to as

A

Respiratory distress syndrome

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41
Q

Exogenous administration of cortisol to a mother can help increase

A

Surfactant (Lecithin) production

42
Q

Used to assess for adequate levels of surfactant

-Can be obtained by amniocentesis

A

Lecithin : Sphingomyelin ratio (L:S)

43
Q

What is an adequate L:S?

A

Greater than 2

44
Q

What L:S value indicates risk for respiratory distress?

A

Less than 1.5

45
Q

Serves as the structural backbone of sphingolipids

A

Sphingosine

46
Q

An example of a sphingophospholipids in the body that plays an integral role in the nervous system

A

Sphingomyelin

47
Q

As evidenced by its name, sphingomyelin is an important component of the myelin nerve fibers that allow for quick conduction of

A

Electrical signals

48
Q

The immediate precursor to sphingomyelin is

A

Ceramide

49
Q

Catalyzes the breakdown of sphingomyelin into ceramide and phosphatidylcholine

A

Sphingomyelinase

50
Q

Catalyzes the breakdown of ceramide into sphingosine and FFA

A

Ceramidase

51
Q

If there is a deficiency of the enzyme sphingomyelinase. As a result, sphingomyelin will build up at toxic levels resulting in a clinical syndrome manifested by

A

Severe neurological damage, liver enlargement, and premature death

52
Q

Deficiency of the enzyme sphingomyelinase. As a result, sphingomyelin will build up at toxic levels resulting in a clinical syndrome manifested by severe neurological damage, liver enlargement, and premature death

A

Niemann-Pick disease

53
Q

Very severe disease with <1% sphingomyelinase activity

-more frequent in Ashkenazi Jewish population, death during infanthood

A

Type A Neimann Pick

54
Q

Less severe form of the disease with 5% or more sphingomyelinase activity

-Life extended to adulthood

A

Type B Neimann Pick

55
Q

A type of sphingolipid that contains both carbohydrates and lipids

A

Glycolipid

56
Q

A key component in the production of glycolipids

A

Ceramide

57
Q

Can be combined with UDP-sugars to form various glycolipid precursors

A

Ceramide

58
Q

The degradation of glycolipids follows the classic format of

A

Last on, first off

59
Q

A type of lipid molecule that function to provide stability and protection to the plasma membrane lipid bilayer

A

Sphingolipids

60
Q

In a normal individual, synthesis and degradation of glycosphingolipids are balanced, so that the amount of these compounds present in membranes is

A

Constant

61
Q

Sphingolipidoses typically have an effect on

-due to accumulation of toxic biochemical entities

A

Neuronal function

62
Q

A specific lysosomal hydrolytic enzyme is deficient in each

A

Sphingolipidoses

63
Q

Each sphingolipidoses is characterized by the accumulation of a single

-Dependent on which enzyme is deficient

A

Sphingolipid

64
Q

The disorders are progressive and, although many are fatal in childhood, extensive phenotypic variability is seen leading to the designation of different clinical types

A

Sphingolipidoses

65
Q

The sphingolipidoses are autosomal recessive diseases, except for

A

Fabry disease (X-linked)

66
Q

The incidence of the sphingolipidoses is low in most populations, except for

-Like Niemann-Pick disease, show a high frequency in the Ashkenazi Jewish population

A

Gaucher and Tay-Sachs diseases

67
Q

A specific sphingolipidosis can be diagnosed by measuring enzyme activity in cultured fibroblasts or peripheral leukocytes, or by analysis of

A

DNA

68
Q

Shell-like inclusion bodies are seen in histological examination of

A

Tay-Sachs

69
Q

A wrinkled tissue paper appearance of the cytosol is seen in

A

Gaucher disease

70
Q

In Gaucher disease, macrophages become engorged with

A

Glucocerebroside

71
Q

Globosides accumulate in the vascular endothelial lysosomes of the brain, heart, kidneys, and skin in

A

Fabry Disease

72
Q

Treated by recombinant human enzyme replacement therapy

A

Gaucher and Fabry disease

73
Q

Has also been treated by bone marrow transplantation, and by substrate reduction therapy through pharmacological reduction of glucosylceramide, the substrate for the deficient enzyme

A

Gaucher DIsease

74
Q

This disease state is commonly found in Jewish populations of Eastern European decent

A

Tay-Sachs

75
Q

The pathogenesis of Tay-Sachs involves an accumulation of ganglionucleosides secondary to a deficient enzyme important for normal breakdown. The deficient enzyme is

A

B-Hexosaminidase A

76
Q

A lack of this important enzyme in the breakdown pathway leads to an accumulation of toxic

A

Gangliosides

77
Q

This accumulation of gangliosides results in the progressive deterioration of

A

Nerve Cells

78
Q

Over time, patients develop progressive neurological dysfunction including poor muscle tone, seizures, nystagmus, ataxia, hyperreflexia, pathological reflexes, and loss of vision

A

Tay-Sachs

79
Q

A “cherry-red spot” (although not diagnostic) can be seen on eye examination with

A

Tay-Sachs

80
Q

This disease state is a group of inherited metabolic disorders characterized by an autosomal recessive pattern

A

Niemann-Pick Disease

81
Q

The disease involves defective breakdown of sphingolipids resulting in toxic accumulations of sphingomyelin

A

Niemann-Pick Disease

82
Q

Sphingomyelin is a component of the cell membrane that is typically broken down in

A

Lysosomes

83
Q

Sphingomyelin accumulates in lysosomes when we are missing the enzyme

A

Sphingomyelinase

84
Q

Characterized by cells with a “foamy” appearance, due to the accumulation of lipids (fat) within the lysosome

A

Niemann-Pick Disease

85
Q

In Niemann-Pick disease, sphingomyelin buildup is especially prominant in macrophages in the

A

Spleen and liver (results in hepatosplenomegaly)

86
Q

Many of the neurological findings in Niemann-Pick disease are similar to those of

A

Tay-Sachs

87
Q

Also shows the cherry-red spot

A

Niemann-Pick disease

88
Q

The prototype of macrophage storage disorder is

A

Gaucher disease

89
Q

An autosomal recessive disease caused by a deficiency in glucocerebrocidase

A

Gaucher disease

90
Q

Tissues most affected by Gaucher disease are those whose lysosomes store the

A

Glucocerebroside

91
Q

Lysosomes are critical to the function of

A

Macrophages

92
Q

Bone marrow, the liver, lungs, spleen, and brain are affected by

A

Gaucher disease

93
Q

Also affected by Gaucher disease since lysosome activity is critical to their function

-bone cells

A

Osteoclasts

94
Q

Symptoms include hepatosplenomegaly, pancytopenia, severe pain in bones and joints (particularly in the hips and knees), osteoporosis, avascular necrosis of bones, and potential neurological dysfunction

A

Gaucher Disease

95
Q

Diagnosis can be made with measurement of glucocerebrosidase activity in peripheral leukocytes

A

Gaucher disease

96
Q

Treatment for Gaucher disease is available with

A

Intravenous recombinant glucocerebrosidase

97
Q

Yet another rare, autosomal recessive neurodegenerative disorder. The hallmark features involve myelin loss and the presence of globoid bodies within the white matter

A

Krabbe Disease

98
Q

The structural changes seen in Krabbe disease occur due to an inherited deficiency of the lysosomal enzyme

A

B-galactocerebrosidase

99
Q

Without this enzyme, the body cannot break down myelin successfully, which gives rise to a host of neurological symptoms

A

B-galactocerebrosidase

100
Q

From gross neurological deficits to optic atrophy, there is no single presentation of

A

Krabbe Disease

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