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

Inborn Errors: Glycolipid Disorders Flashcards

Note that Bessessen will NOT ask about specific enzyme names

1
Q

Gaucher Type I: inheritance

A

Autosomal recessive

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2
Q

Gaucher Type I: enzyme deficiency

A

Beta-glucosidase (glucocerebrosidase)

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3
Q

Gaucher Type I: presentation

A
  • Adult onset
  • Bony pain (avascular necrosis)
  • Hepatosplenomegaly
  • Anemia
  • Thrombocytopenia
  • Normal intellect
  • Restrictive lung disease
  • Gaucher cells (macrophages) in bone marrow
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4
Q

Gaucher Type I: organs involved/untreated survival

A
  • Skeleton, liver, spleen, bone marrow
  • No CNS involvement
  • Will live normal life span
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5
Q

Gaucher Type I: key features

A
  • 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
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6
Q

Tay Sachs Type I: inheritance

A

Autosomal recessive

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7
Q

Tay Sachs Type I: enzyme deficiency

A

Beta-hexosaminidase A

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8
Q

Tay Sachs Type I: presentation

A
  • Infantile
  • Blindness, seizures, mental and motor deterioration
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9
Q

Tay Sachs Type I: organs involved/untreated survival

A
  • Mainly CNS involvement
  • Will die
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10
Q

Tay Sachs Type I: key features

A
  • Cherry red spot in eye (classic)
  • Increased startle reflex
  • Normal liver/spleen
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11
Q

Fabry disease: inheritance

A

X-linked (females have delayed disease)

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12
Q

Fabry disease: enzyme deficiency

A

Alpha-galactosidase

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13
Q

Fabry disease: presentation

A
  • Childhood: acroparesthesias
  • Young adult: proteinuria, angiokeratomas (skin)
  • Renal failure, death at 4th decade
  • Cardiac disease (hypertrophy) if renal disease treated
  • Chronic irritable bowel
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14
Q

Fabry disease: organs involved/untreated survival

A
  • Nervous system, skin, renal, cardiac, eye
  • Death in males ~age 40 if untreated
  • Women have delayed onset
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15
Q

Fabry disease: key features

A
  • Treatment available
  • Angiokeratomas (bathing trunk distribution)
  • Renal failure
  • Acroparesthesias (pain in palms and soles)
  • Normal IQ
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16
Q

Pompe Disease: inheritance

A

Autosomal recessive

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17
Q

Pompe Disease: enzyme deficiency

A

Alpha-glucosidase

18
Q

Pompe Disease: presentation

A
  • Infantile: major muscle weakness, hypertrophic cardiomyopathy
  • Adult: gradual proximal muscle weakness with normal heart and respiratory failure
19
Q

Pompe Disease: organs involved/untreated survival

A
  • Skeletal muscles, heart
  • Infantile onset will die
20
Q

Pompe Disease: key features

A
  • Treatment available
  • Infant with profound weakness and hypertrophic cardiomyopathy OR
  • Adult with proximal muscle weakness and sleep apnea
21
Q

Hunter syndrome: inheritance

A

X-linked (females have no disease)

22
Q

Hunter syndrome: enzyme deficiency

A

Iduronate sulfatase

23
Q

Hunter syndrome: presentation

A
  • Children:
    • Growth
    • Coarse facies
    • Airway disease
    • Cognitive decline
    • Heart valve problems
    • Macroglossia
    • Hoarse voice
    • Hearing loss
    • Hepatosplenomegaly
24
Q

Hunter syndrome: organs involved/untreated survival

A
  • Growth, skeleton, skin, airway, CNS, heart, liver, spleen, corneal disease
  • Severe cases will die
25
Q

Hunter syndrome: key features

A
  • Treatment available
  • Coarse-appearing, short child with hoarse voice
  • Frequent URIs
  • Some learning problems
  • NO corneal clouding
26
Q

Hurler syndrome: inheritance

A

Autosomal recessive

27
Q

Hurler syndrome: enzyme deficiency

A

Alpha-iduronidase

28
Q

Hurler syndrome: presentation

A
  • Looks a bit like Hunter BUT girls affected also
  • Growth
  • Coarse facies
  • Airway disease
  • Hearing loss
  • Significant cognitive decline
  • Dysostosis multiplex
29
Q

Hurler syndrome: organs involved/untreated survival

A
  • Growth, skeleton, skin, airway, CNS, heart, liver, spleen, corneal disease
  • Severe cases will die
30
Q

Hurler syndrome: key features

A
  • Treatment available
  • Similar to Hunter (can occur in girls)
  • Coarse facies
  • Big liver/spleen
  • Major skeletal problems
  • Corneal clouding
31
Q

McArdle Disease: inheritance

A

Autosomal recessive

32
Q

McArdle Disease: enzyme deficiency

A

Glycogen phosphorylase

33
Q

McArdle Disease: presentation

A
  • Muscle weakness and cramping
  • Normal liver enzymes
  • Normal cognition
  • Chronic condition
  • Myoglobinuria (coffee-colored urine after exercise)
34
Q

McArdle Disease: organs involved/untreated survival

A
  • Muscles
35
Q

McArdle Disease: key features

A
  • Muscle cramping after exercise
  • Myoglobinuria (coffee colored urine after exercise)
36
Q

Niemann-Pick type A/B: inheritance

A

Autosomal recessive

37
Q

Niemann-Pick type A/B: enzyme deficiency

A

Sphingomyelinase

38
Q

Niemann-Pick type A/B: presentation

A
  • Type A: severe with CNS
  • Type B: non-neuropathic
  • Major hepatosplenomegaly
  • Xanthomas in skin
  • Cherry red spot
  • Supranuclear palsy (vertical gaze palsy)
  • Corneal opacities
  • Anemia
  • Coronary artery disease
39
Q

Niemann-Pick type A/B: organs involved/untreated survival

A
  • Systemic: CNS (type A), liver, spleen, skin, eye, growth, bone marrow, respiratory, cardiovascular
  • Type A likely to die early
40
Q

Niemann-Pick type A/B: key features

A
  • Supranuclear gaze palsy
  • Cherry red spot
  • BIG hepatosplenomegaly

DEMS: Unit IIb (23 decks)

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