Inborn Errors: Glycolipid Disorders Flashcards Preview

DEMS: Unit IIb > Inborn Errors: Glycolipid Disorders > Flashcards

Flashcards in Inborn Errors: Glycolipid Disorders Deck (40)
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1

Gaucher Type I: inheritance

Autosomal recessive

2

Gaucher Type I: enzyme deficiency

Beta-glucosidase (glucocerebrosidase)

3

Gaucher Type I: presentation

  • Adult onset
  • Bony pain (avascular necrosis)
  • Hepatosplenomegaly
  • Anemia
  • Thrombocytopenia
  • Normal intellect
  • Restrictive lung disease
  • Gaucher cells (macrophages) in bone marrow

4

Gaucher Type I: organs involved/untreated survival

  • Skeleton, liver, spleen, bone marrow
  • No CNS involvement
  • Will live normal life span

5

Gaucher Type I: key features

  • Treatment available
  • Adult onset
  • Big liver/spleen
  • Anemia/low platelets
  • Increased incidence in Ashkenazi Jews
  • Erlenmeyer flask deformity on X-ray
  • "Crumped tissue paper" histology

6

Tay Sachs Type I: inheritance

Autosomal recessive

7

Tay Sachs Type I: enzyme deficiency

Beta-hexosaminidase A

8

Tay Sachs Type I: presentation

  • Infantile
  • Blindness, seizures, mental and motor deterioration

9

Tay Sachs Type I: organs involved/untreated survival

  • Mainly CNS involvement
  • Will die

10

Tay Sachs Type I: key features

  • Cherry red spot in eye (classic)
  • Increased startle reflex
  • Normal liver/spleen

11

Fabry disease: inheritance

X-linked (females have delayed disease)

12

Fabry disease: enzyme deficiency

Alpha-galactosidase

13

Fabry disease: presentation

  • Childhood: acroparesthesias
  • Young adult: proteinuria, angiokeratomas (skin)
  • Renal failure, death at 4th decade
  • Cardiac disease (hypertrophy) if renal disease treated
  • Chronic irritable bowel

14

Fabry disease: organs involved/untreated survival

  • Nervous system, skin, renal, cardiac, eye
  • Death in males ~age 40 if untreated
  • Women have delayed onset

15

Fabry disease: key features

  • Treatment available
  • Angiokeratomas (bathing trunk distribution)
  • Renal failure
  • Acroparesthesias (pain in palms and soles)
  • Normal IQ

16

Pompe Disease: inheritance

Autosomal recessive

17

Pompe Disease: enzyme deficiency

Alpha-glucosidase

18

Pompe Disease: presentation

  • Infantile: major muscle weakness, hypertrophic cardiomyopathy
  • Adult: gradual proximal muscle weakness with normal heart and respiratory failure

19

Pompe Disease: organs involved/untreated survival

  • Skeletal muscles, heart
  • Infantile onset will die

20

Pompe Disease: key features

  • Treatment available
  • Infant with profound weakness and hypertrophic cardiomyopathy OR
  • Adult with proximal muscle weakness and sleep apnea

21

Hunter syndrome: inheritance

X-linked (females have no disease)

22

Hunter syndrome: enzyme deficiency

Iduronate sulfatase

23

Hunter syndrome: presentation

  • Children:
    • Growth
    • Coarse facies
    • Airway disease
    • Cognitive decline
    • Heart valve problems
    • Macroglossia
    • Hoarse voice
    • Hearing loss
    • Hepatosplenomegaly

24

Hunter syndrome: organs involved/untreated survival

  • Growth, skeleton, skin, airway, CNS, heart, liver, spleen, corneal disease
  • Severe cases will die

25

Hunter syndrome: key features

  • Treatment available
  • Coarse-appearing, short child with hoarse voice
  • Frequent URIs
  • Some learning problems
  • NO corneal clouding

26

Hurler syndrome: inheritance

Autosomal recessive

27

Hurler syndrome: enzyme deficiency

Alpha-iduronidase

28

Hurler syndrome: presentation

  • Looks a bit like Hunter BUT girls affected also
  • Growth
  • Coarse facies
  • Airway disease
  • Hearing loss
  • Significant cognitive decline
  • Dysostosis multiplex

29

Hurler syndrome: organs involved/untreated survival

  • Growth, skeleton, skin, airway, CNS, heart, liver, spleen, corneal disease
  • Severe cases will die

30

Hurler syndrome: key features

  • Treatment available
  • Similar to Hunter (can occur in girls)
  • Coarse facies
  • Big liver/spleen
  • Major skeletal problems
  • Corneal clouding