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3. Metabolism > Large, MPS > Flashcards

Large, MPS Flashcards

1
Q

[Met/MPS]

Mucopolysaccharidoses with typical dysmorphic/coarse features? (3)

A

MPS 1H (Herler)
MPS 2 (Hunter)
MPS 6 (Maroteaus-Lamy)

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2
Q

[Met/MPS]

Mucopolysaccharidoses with learning difficulties, behavioral problems, and dementia?

A

MPS 3 (Sanfilippo)

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3
Q

[Met/MPS]

Mucopolysaccharidoses with severe bone dysplasia?

A

MPS 4 (Morquio)

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4
Q

[Met/MPS]

Mucopolysaccharidoses 1 types and enzyme defect?

A

Severe or attenuated (Hurler or Scheie, previously)

a-L-iduronidase defect

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5
Q

[Met/MPS]

Mucopolysaccharidoses 2 types and enzyme defect?

A

Hunter

Iduronate sulfatase defect

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6
Q

[Met/MPS]

Mucopolysaccharidoses 3 name and types?

A

Sanfilippo A, B, C, D

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7
Q

[Met/MPS]

Mucopolysaccharidoses 4 types and enzyme defect?

A

Morquio A: Galactose 6-sulfatase
Morquio B: b-galactosidase

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8
Q

[Met/MPS]

Mucopolysaccharidoses 6 types and enzyme defect?

A

Maroteaux-Lamy

N-acetylgalactosamine 4-sulfatase (arylsulphatase B)

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9
Q

[Met/MPS]

Mucopolysaccharidoses 7 types name?

A

Sly

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10
Q

[Met/MPS]

Mucopolysaccharidoses 9 types and enzyme defect?

A

Natowicz

Hyaluronidase

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11
Q

[Met/MPS]

Clinical presentation of untreated severe MPS 1 (Hurler) by age? (4)

A

At birth: non-specific, umbilical or inguinal hernia, frequent URI
By 1 year: coarse facial features, Gibbus deformity, progressive skeletal dysplasia
By 3 year: intellectual disability, hearing loss, corneal clouding
Death by 10 years of life without treatment

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12
Q

[Met/MPS]

Clinical presentation of untreated attenuated MPS 1 (Hurler)?
- Onset age
- 4 organ systems

A

Onset between 1-10 years
Hearing loss
Corneal clouding
Respiratory involvement
Cardiac valvular disease

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13
Q

[Met/MPS]

Treatment options for MPS 1 (Hurler)? (2)

A

Hematopoietic stem cell transplantation with severe MPS 1
Enzyme replacement therapy with Aldurazyme

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14
Q

[Met/MPS]

Less effected symptoms from hematopoietic stem cell transplantation in severe MPS 1? (3)

A

HSCT has lesser effects on
- the skeletal and joint manifestations
- corneal clouding
- cardiac involvement

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15
Q

[Met/MPS]

Inheritance pattern of MPS 2 (Hunter)?

A

X-linked

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16
Q

[Met/MPS]

Classification (recently considering) for MPS 2 (Hunter)?

A

Early progressive and slowly progressive
(Disease has a wide variety, and has a continuum)

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17
Q

[Met/MPS]

Diagnostic biochemical test and genetic test for MPS 1 (Hurler)? (3)

A

Enzyme activity: the lysosomal enzyme α-L-iduronidase (IDUA)
Elevation of glycosaminoglycan (GAG): dermatan sulfate, heparan sulfate
Gene: IDUA

18
Q

[Met/MPS]

Clinical presentation of usually seen only in early progressive MPS 2 (Hunter) compared to slowly progressive? (3 organ systems)

A

CNS: progressive cognitive deterioration
Resp: frequent URI, progressive airway obstruction
Cardiac: valvular disease, cardiomyopathy

19
Q

[Met/MPS]

Common Clinical presentation of both early progressive and slowly progressive MPS 2 (Hunter)? (6)

A

Macrocephaly, hydrocephalus
Macroglossia
Conductive and sensorineural hearing loss
Hepatosplenomegaly
Dysostosis multiplex (deposition of lipid like substance in body tissues)
Carpal tunnel syndrome
(No corneal clouding in Hunter)

20
Q

[Met/MPS]

Diagnostic biochemical test and genetic test for MPS 2 (Hunter)? (3)

A

Iduronate 2-sulfatase (I2S) enzyme activity
Glycosaminoglycan (GAG): dermatan sulfate, heparan sulfate
Gene: IDS

21
Q

[Met/MPS]

Treatment options for MPS 2 (Hunter)? (2)

A

Enzyme replacement therapy with Elaprase
Hematopoietic stem cell transplantation, but no RCT done

22
Q

[Met/MPS]

What based for classification of MPS 3 (Sanfilippo)?

A

Based on enzyme defects

MPS IIIA: N-sulphoglucosamine sulphohydrolase (m/c)
MPS IIIB: Alpha-N-acetylglucosaminidase,
MPS IIIC: Heparan-alpha-glucosaminide N-acetyltransferase
MPS IIID: N-acetylglucosamine-6-sulfatase

23
Q

[Met/MPS]

Clinical presentation of MPS 3 (Sanfilippo)? (3 phases)

A

Phase 1—developmental delay with recurrent URIs, diarrhea
Phase 2—severe, challenging behavior presents with hyperactivity and aggression, Precocious puberty
Phase 3—further neurologic deterioration, Death occurs by the 20s.

24
Q

[Met/MPS]

Treatment of MPS 3 (Sanfilippo)?

A

Supportive care
(HSCT considered not effective, ERT is limited due to BBB, developing intrathecal)

25
Q

[Met/MPS]

Characteristic first manifestation and onset of age for MPS IVA (Morquio A)?

A

Kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum
Severe form: 1 - 3 years old

26
Q

[Met/MPS]

Intelligence level of progressed MPS IVA (Morquio A)?

A

Normal intellectual abilities

27
Q

[Met/MPS]

Name of Bony deformity in MPS
Which MPS is less associated?

A

Dystostosis multiplex
Less seen in MPS 3 (Sanfilippo)
Seen in MPS 1 (Hurler), MPS 2 (Hunter), MPS 4 (Morquio)

28
Q

[Met/MPS]

Treatment for mucopolysaccharidosis IVA (MPS IVA) (Morquio A)?

A

Enzyme replacement therapy (elosulfase alfa)

29
Q

[Met/MPS]

Category of disease Mucopolysaccharidosis type IVB (MPS IVB) belongs to?

A

GLB1-related disorders

30
Q

[Met/MPS]

Subtypes of GLB1-related disorders that has mucopolysaccharidosis type IVB (MPS IVB)? (2)

A

GM1 gangliosidosis: infantile, late-infantile/juvenile, chronic
MPS IVB (Morquio B)

31
Q

[Met/MPS]

Enzyme defect of GLB1-related disorders that has mucopolysaccharidosis type IVB (MPS IVB)? (1)

A

Beta-galactosidase deficiency

32
Q

[Met/MPS]

Distinction between GM1 gangliosidosis and MPS IVB (Morquio B) in GLB1-related disorders?

A

GM1 gangliosidosis: neuronal degeneration
MPS IVB (Morquio B): skeletal dysplasia

33
Q

[Met/MPS]

Treatment for mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome)?

A

Enzyme replacement therapy: Naglazyme

34
Q

[Met/MPS]

Clinical characteristics of mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome)? (3)

A

Joint degeneration
Cardiovascular disease
Reduced pulmonary function
(Usually normal intelligence, might have learning difficulties from hearing loss)

35
Q

[Met/MPS]

Dignosis?

Skin ‘pebbling’ between scapulae
With coarse facies, joint stiffness, and carpal tunnel syndrome

A

MPS 2 (Hunter)

36
Q

[Met/MPS]

Treatment options for MPS type 1, 2, 3, 4, 6 and 7?

A

No ERT for MPS 3 (Sanfilippo)
HSCT for MPS 1 (Hurler) (maybe MPS 2, Hunter)

MPS1 (Hurler): Aldurazyme
MPS2 (Hunter): Elaprase
MPS4A (Morquio A): Elosulfase alfa
MPS6 (Maroteaux-Lamy): Naglazyme

37
Q

[Met/MPS]

MPS 1, 2, 3, and 4 comparison in accumulating substances, neurologic, skeletal, organs, and cornea involvement.

A
38
Q

[Met/LSD]

Three categories of lysosomal storage disorders? (3)

A

Mucopolysaccharidoses (MPS)
Sphingolipidoses (Gaucher, Niemann-Pick, Tay-Sachs)
Pompe disease (GSD and LSD)

39
Q

[Met/LSD]

Two major lysosomal storage disease?

A

Mucopolysaccharidosis
Sphingolipidoses

40
Q

[Met/LSD]

Diseases that have Enzyme replacement therapy available in lysosomal storage disease? (4)

A

Gaucher
Fabry
Pompe
Wolman (lysosomal acid lipase (LAL) deficiency)

3. Metabolism (14 decks)

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