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z- DEMS UNIT 3 > Inborn Errors- Taylor- 2 > Flashcards

Inborn Errors- Taylor- 2 Flashcards

1
Q

Inheritance

Pompe Disease

A

Autosomal recessive

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2
Q

Inheritance

Hunter

A

X-linked recessive

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3
Q

Inheritance

Hurler

A

Autosomal recessive

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4
Q

Age of onset

Pompe Disease

A

Infantile: present at 3-6 months; dead at 1 year (w/o Rx)
Childhood: not likely tested on
Adult: slowly progressive muscle weakness

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5
Q

Age of onset

Hunter

A

Childhood

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6
Q

Age of onset

Hurler

A

Childhood

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7
Q

Clinical Presentation

Pompe Disease

A

Infant with progressive muscle weakness and LVH

Adult with proximal muscle weakness and respiratory weakness (sleep apnea)

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8
Q

Clinical Presentation

Hunter

A

Coarse facies, airway disease, ear infections, hoarse voice, NO corneal clouding

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9
Q

Clinical Presentation

Hurler

A

Coarse facies, airway disease, ear infections, hoarse voice, + corneal clouding, hearing loss

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10
Q

Lab/Imaging

Pompe Disease

A

Elevated CK; no cherry red spot; normal liver/spleen; glycogen on muscle biopsy

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11
Q

Lab/Imaging

Hunter

A

Hepatosplenomegaly, short stature

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12
Q

Lab/Imaging

Hurler

A

Hepatosplenomegaly, short stature,

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13
Q

Organs Involved

Pompe Disease

A

Skeletal muscles (all); heart (infant)

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14
Q

Organs Involved

Hunter

A

Brain, airway, liver, heart valves, skeleton

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15
Q

Organs Involved

Hurler

A

Brain, airway, liver, heart valves, skeleton

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16
Q

Key Features

Pompe Disease

A

Infant with muscle weakness, high CK, and LVH on ECG

Adult with sleep apnea and trouble climbing stairs

17
Q

Key Features

Hunter

A

Male only with above features and no corneal clouding

18
Q

Key Features

Hurler

A

Probably a girl with this (so you know it’s not Hunter)

19
Q

Enzyme deficient

Pompe Disease

A

Alpha-glucosidase

20
Q

Enzyme deficient

Hunter

A

Iduronate sulfatase

21
Q

Enzyme deficient

Hurler

A

Alpha iduronidase

22
Q

Treatment

Pompe Disease

A

Alglucosidase alfa

23
Q

Treatment

Hunter

A

Idursulfase

24
Q

Treatment

Hurler

A

laronidase

z- DEMS UNIT 3 (17 decks)

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