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CMBM Exam 2 > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

Sphingolipidoses

A
  • Mutations in the genes encoding lysosomal hydrolases
  • Defects in the degradation of sphingolipids are associated with progressive neurodegeneration since the nervous system is rich in these lipids
  • autosomal recessive for all sphingolipidoses
    • except for Fabry’s disease, which is an X-linked disorder
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2
Q

Tay-Sachs disease deficiency

A
  • Hexosaminidase A

- Prevalent in Ashkenazi descent

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3
Q

Tay-Sachs disease symptoms

A
  • mental impairment
  • early mortality
  • “cherry-red” spots in their eyes
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4
Q

Fabry’s disease deficiency

A
  • α-Galactosidase A
  • A mutation in the gene causes build up to harmful levels of globoside or ceramide trihexoside in the eyes, kidneys, autonomic nervous system, and cardiovascular system
  • Fabry disease is one of several lipid storage disorders and the only X-linked sphingolipidoses
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5
Q

Fabry’s disease symptoms

A
  • heart failure
  • pain
  • skin rashes
  • often die prematurely of complications from strokes, heart disease, or renal failure
  • Angiokeratomas: small, raised reddish blemishes on the skin (chest and back)
  • Renal failure
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6
Q

Tay-Sachs disease accumulating substance

A
  • GM2 ganglioside
    • Gangliosides are synthesized and degraded rapidly in early life as the brain develops
  • Normal development for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs
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7
Q

Fabry’s disease accumulating substance

A
  • globoside or ceramide trihexoside build up in the eyes, kidneys, autonomic nervous system, and cardiovascular system
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8
Q

Metachromatic leukodystrophy deficiency

A
  • arylsulfatase
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9
Q

Metachromatic leukodystrophy accumulating substance

A
  • sulfatide
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10
Q

Metachromatic leukodystrophy symptoms

A
  • mental impairment
  • damage to protective sheaths surrounding nerve, kidneys, gallbladder, and other organs
  • Loss of muscle control
  • Feeding and swallowing difficulties
  • Metachromatic granules
  • 3 forms of the disease
    ▪ Late infantile: MLD symptoms begin by ages 1 - 2
    ▪ Juvenile: MLD symptoms between ages 4 and 12
    ▪ Adult and late-stage juvenile: symptoms may occur >14, or as late as the 40s or 50s
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11
Q

Gaucher’s disease deficiency

A
  • glucocerebrosidase

- prevalent in Ashkenazi descent

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12
Q

Gaucher’s disease accumulating substance

A
  • glucocerebroside deposition in

hematopoietic organs including the bone marrow, spleen and liver

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13
Q

Gaucher’s disease symptoms

A
  • mental impairment
  • Loss of bone density and bone pain and fractures
  • Cognitive and mental impairments
  • Fatigue and lack of energy due to anemia
  • Seizures
  • Gaucher cells
    • Showing “crinkled paper” cytoplasm and glycolipid-laden macrophage
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14
Q

Niemann-Pick disease deficiency

A
  • Sphingomyelinase
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15
Q

Niemann-Pick disease accumulating substance

A
  • Sphingomyelin LDL-derived cholesterol accumulating in the spleen, liver, lungs, bone marrow, and brain
  • Fatal
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16
Q

Niemann-Pick disease symptoms

A
  • mental impairment
  • early mortality
  • Affected cells become enlarged
  • Histology demonstrates lipid laden macrophages in the marrow
  • “sea-blue histiocytes” on pathology
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17
Q

The 4 major classes of glycosphingolipids

A

◼ Cerebrosides: contain 1 sugar, principally galactose (galactocerebrosides)
◼ Globosides: contain 2 or more sugars
◼ Gangliosides: contain 2 or more sugars plus sialic acid
◼ Sulfatides: sulfuric acid esters of
galactocerebrosides

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18
Q

Tay-Sachs treatment

A

None

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19
Q

Fabry’s disease treatment

A
  • ERT has been approved by the FDA

* can reduce lipid storage, ease pain, and improve organ function

20
Q

Gaucher disease type 1

A
  • most common
  • involves bone disease, anemia, an enlarged spleen and thrombocytopenia
  • affects both children and adults and is most common in the Ashkenazi Jewish population
21
Q

Gaucher disease type 2

A
  • usually begins in infancy with
    severe neurologic involvement
  • can lead to rapid, early death
22
Q

Gaucher disease type 3

A
  • may cause liver, spleen, and brain problems

- Patients may live into adulthood

23
Q

Sandhoff disease deficiency

A
  • hexosaminidase A and B
24
Q

Sandhoff disease accumulating substance

A
  • globoside
25
Q

Sandhoff disease symptoms

A
  • similar to Tay-Sachs disease but occur more commonly in non-Jewish people of Argentina and Lebanon
26
Q

GM1 Gangliosidosis deficiency

A
  • beta-galactosidase
27
Q

GM1 Gangliosidosis accumulating substance

A
  • GM1 gangliosides
28
Q

GM1 Gangliosidosis symptoms

A
  • infantile form is named pseudo-Hurler disease b/c of rapid neurological deterioration, coarsened facial features and hepatosplenomegaly
  • more common in the pop. of Malta
29
Q

Krabbe disease deficiency

A
  • beta-galactosidase
30
Q

Krabbe disease accumulating substance

A
  • galactocerebroside
31
Q

Krabbe disease symptoms

A
  • demyelination in the white matter of the brain and peripheral nerves
  • globoid cells are characteristic
  • presents w/ blindness, deafness, paralysis and mental retardation
32
Q

Mucopolysaccharidoses (MPS) types

A
  • MPS I – Hurler-Scheie syndrome

- MPS II – Hunter disease

33
Q

Mucopolysaccharidoses (MPS) characteristics

A
  • Normal degradation of carbohydrate chains of glycosaminoglycans
  • defective enzyme cause permanent, progressive cellular damage affecting appearance, physical abilities, mental development
  • may range from normal intellect to
    profound mental impairment
34
Q

Mucopolysaccharidoses (MPS) accumulating substance

A
  • glycosaminoglycans
35
Q

Mucopolysaccharidoses (MPS) symptoms

A
  • rough facial features
    • thick lips, enlarged mouth and tongue
  • dwarfism
  • enlarged organs (liver or spleen)
36
Q

Hurler-Scheie syndrome deficiency

A
  • iduronidase
37
Q

Hunter syndrome deficiency

A
  • X-linked deficiency of enzyme iduronate sulfatase
38
Q

Hurler-Scheie syndrome accumulating substance

A
  • dermatan sulfate

- heparan sulfate

39
Q

Hurler-Scheie syndrome symptoms

A
  • gargoyle-like faces
  • mental retardation
  • dwarfism
  • ischemic heart disease
  • corneal clouding
40
Q

Hurler-Scheie syndrome treatment

A
  • enzyme replacement
41
Q

Hunter syndrome accumulating substance

A
  • dermatan sulfate

- heparan sulfate

42
Q

Hunter syndrome symptoms

A
  • similar to Hurler syndrome but less severe

- no corneal clouding

43
Q

Mucolipidoses (ML) general characteristics

A
  • Autosomal recessive
  • Accumulation of sphingolipids, and/or glycolipids in visceral and mesenchymal cells in neural tissue
  • leads to swelling and damage of organs
  • Dysostosis multiplex occur frequently
    • deformity in the developmental stages of cartilage and bone
  • Symptoms range from mild learning disabilities to severe mental impairment and skeletal deformities
  • No cure
44
Q

Mucolipidoses (ML) types

A
  • Mucolipidosis II (inclusion-cell, or I-cell disease)
  • Mucolipidosis III (pseudo-Hurler
    polydystrophy)
45
Q

Mucolipidoses (ML) deficiency

A
  • N-acetylglucosamine-1-phosphotransferase
    • phosphorylates target carbohydrate residues on N-linked glycoproteins
    • Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escape outside the cell
46
Q

Mucolipidoses (ML) symptoms

A
  • skeletal abnormalities
  • vision problems
  • developmental delays

CMBM Exam 2 (13 decks)

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