Large, MPS Flashcards
[Met/MPS]
Mucopolysaccharidoses with typical dysmorphic/coarse features? (3)
MPS 1H (Herler)
MPS 2 (Hunter)
MPS 6 (Maroteaus-Lamy)
[Met/MPS]
Mucopolysaccharidoses with learning difficulties, behavioral problems, and dementia?
MPS 3 (Sanfilippo)
[Met/MPS]
Mucopolysaccharidoses with severe bone dysplasia?
MPS 4 (Morquio)
[Met/MPS]
Mucopolysaccharidoses 1 types and enzyme defect?
Severe or attenuated (Hurler or Scheie, previously)
a-L-iduronidase defect
[Met/MPS]
Mucopolysaccharidoses 2 types and enzyme defect?
Hunter
Iduronate sulfatase defect
[Met/MPS]
Mucopolysaccharidoses 3 name and types?
Sanfilippo A, B, C, D
[Met/MPS]
Mucopolysaccharidoses 4 types and enzyme defect?
Morquio A: Galactose 6-sulfatase
Morquio B: b-galactosidase
[Met/MPS]
Mucopolysaccharidoses 6 types and enzyme defect?
Maroteaux-Lamy
N-acetylgalactosamine 4-sulfatase (arylsulphatase B)
[Met/MPS]
Mucopolysaccharidoses 7 types name?
Sly
[Met/MPS]
Mucopolysaccharidoses 9 types and enzyme defect?
Natowicz
Hyaluronidase
[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
[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
[Met/MPS]
Treatment options for MPS 1 (Hurler)? (2)
Hematopoietic stem cell transplantation with severe MPS 1
Enzyme replacement therapy with Aldurazyme
[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
[Met/MPS]
Inheritance pattern of MPS 2 (Hunter)?
X-linked
[Met/MPS]
Classification (recently considering) for MPS 2 (Hunter)?
Early progressive and slowly progressive
(Disease has a wide variety, and has a continuum)
[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)
