Large, MPS Flashcards by juhee lee

[Met/MPS]

Mucopolysaccharidoses with typical dysmorphic/coarse features? (3)

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

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[Met/MPS]

Mucopolysaccharidoses with learning difficulties, behavioral problems, and dementia?

MPS 3 (Sanfilippo)

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[Met/MPS]

Mucopolysaccharidoses with severe bone dysplasia?

MPS 4 (Morquio)

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[Met/MPS]

Mucopolysaccharidoses 1 types and enzyme defect?

Severe or attenuated (Hurler or Scheie, previously)

a-L-iduronidase defect

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[Met/MPS]

Mucopolysaccharidoses 2 types and enzyme defect?

Hunter

Iduronate sulfatase defect

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[Met/MPS]

Mucopolysaccharidoses 3 name and types?

Sanfilippo A, B, C, D

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[Met/MPS]

Mucopolysaccharidoses 4 types and enzyme defect?

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

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[Met/MPS]

Mucopolysaccharidoses 6 types and enzyme defect?

Maroteaux-Lamy

N-acetylgalactosamine 4-sulfatase (arylsulphatase B)

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[Met/MPS]

Mucopolysaccharidoses 7 types name?

Sly

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[Met/MPS]

Mucopolysaccharidoses 9 types and enzyme defect?

Natowicz

Hyaluronidase

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[Met/MPS]

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

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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[Met/MPS]

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

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

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[Met/MPS]

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

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

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[Met/MPS]

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

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

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[Met/MPS]

Inheritance pattern of MPS 2 (Hunter)?

X-linked

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[Met/MPS]

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

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

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[Met/MPS]

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

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

[Met/MPS]

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

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

[Met/MPS]

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

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)

[Met/MPS]

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

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

[Met/MPS]

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

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

[Met/MPS]

What based for classification of MPS 3 (Sanfilippo)?

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

[Met/MPS]

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

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.

[Met/MPS]

Treatment of MPS 3 (Sanfilippo)?

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

# [Met/MPS] Characteristic first manifestation and onset of age for MPS IVA (Morquio A)?

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

# [Met/MPS] Intelligence level of progressed MPS IVA (Morquio A)?

Normal intellectual abilities

# [Met/MPS] Name of Bony deformity in MPS Which MPS is less associated?

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

# [Met/MPS] Treatment for mucopolysaccharidosis IVA (MPS IVA) (Morquio A)?

Enzyme replacement therapy (elosulfase alfa)

# [Met/MPS] Category of disease Mucopolysaccharidosis type IVB (MPS IVB) belongs to?

GLB1-related disorders

# [Met/MPS] Subtypes of GLB1-related disorders that has mucopolysaccharidosis type IVB (MPS IVB)? (2)

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

# [Met/MPS] Enzyme defect of GLB1-related disorders that has mucopolysaccharidosis type IVB (MPS IVB)? (1)

Beta-galactosidase deficiency

# [Met/MPS] Distinction between GM1 gangliosidosis and MPS IVB (Morquio B) in GLB1-related disorders?

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

# [Met/MPS] Treatment for mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome)?

Enzyme replacement therapy: Naglazyme

# [Met/MPS] Clinical characteristics of mucopolysaccharidosis type VI (Maroteaux Lamy Syndrome)? (3)

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

# [Met/MPS] Dignosis? Skin ‘pebbling’ between scapulae With coarse facies, joint stiffness, and carpal tunnel syndrome

MPS 2 (Hunter)

# [Met/MPS] Treatment options for MPS type 1, 2, 3, 4, 6 and 7?

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

# [Met/MPS] MPS 1, 2, 3, and 4 comparison in accumulating substances, neurologic, skeletal, organs, and cornea involvement.

# [Met/LSD] Three categories of lysosomal storage disorders? (3)

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

# [Met/LSD] Two major lysosomal storage disease?

Mucopolysaccharidosis Sphingolipidoses

# [Met/LSD] Diseases that have Enzyme replacement therapy available in lysosomal storage disease? (4)

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