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Flashcards in Lysosomal Storage Disorders Deck (17)
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1
Q

Pompe Disease

(Type II Glycogen Storage Disease)

A
  • Deficiency: α-1,4-glucosidase (acid maltase)
  • Accumulation: Glycogen (in liver, heart, muscle)
  • S/Sx: Cardiomegaly, myopathy
  • Tx: ERT
2
Q

Fabry Disease

A
  • Category: Sphingolipidoses
  • Deficiency: α-galactosidase A
  • Accumulation: ceramide trihexoside (glycosphingolipids, globoside)
  • S/Sx: X-Linked Recessive, Rash (angiokeratoma), acroparasthesia, extremity pn, eye problems, CV disease, kidney disease
  • Tx: ERT
3
Q

Krabbe

(globoid cell leukodystrophy)

A
  • Category: Sphingolipidoses
  • Deficiency: galactosylceramide β-galactosidase
  • Accumulation: galactocerebroside
  • S/Sx: progressive neurologic degeneration
  • Tx: none
4
Q

Gaucher

A
  • Category: Sphingolipidoses
  • Deficiency: β-glucocerebrosidase (in brain, bone marrow, liver, spleen)
  • Accumulation: glucocerebroside
  • S/Sx: hepatosplenomegaly, necrosis of femur, neurologic dysfunction, tissue-paper macrophage, bone pn, protruding belly, no coarsening, Type 1 (mild), Type 3 (more severe), Type 2 (most severe)
  • Tx: ERT, SRT (Eliglustat, Miglustat)
5
Q

Neimann-Pick

A
  • Category: Sphingolipidoses
  • Deficiency: Sphingomyelinase
  • Accumulation: sphingomyelin, cholesterol (liver, spleen, lymph)
  • S/Sx:
    • ​Type A (severe) - death 2-3 y, cherry red spot, foamy macrophage, hepatosplenomegaly, foamy macrophages, psychomotor retardation
    • Type B (mild) - normal intelligence, hepatosplenomegaly
6
Q

Tay-Sachs

(Sandhoff)

A
  • Category: Sphingolipidoses
  • Deficiency: hexosaminidase A (Sandhoff is B)
  • Accumulation: GM2 ganglioside
  • S/Sx: neuro degeneration, cherry red spot on macula, seizures, blindness, death by 5 y/o
  • Tx: none
7
Q

Metachromatic Leukodystrophy

A
  • Category: Sphingolipidoses
  • Deficiency: Aylsulfatase A
  • Accumulation: cerebroside sulfate
  • S/Sx: demylination of CNS and PNS, ataxia, dementia
8
Q

Mucopolysaccharidoses

A
  • Common features: ineffective degradation of GAGs (ex. heparin sulfate, chondroitin, etc.)​, Normal development at first, S/Sx appear in childhood
  • Gangliosides stored in nerve cells form stacks of membranes (zebra bodies)
9
Q

Sanfilippo (MPS III)

A
  • 4 Enzyme Defects:
    • A = Heparan Sulfamidase
    • B = N-Acetylglucosaminidase
    • C = Glucosamine-N-acetyltransferase
    • D = N-Acetylglucosamine-6-sulfatase
  • Accumulation: heparan sulfate
  • S/Sx: nervous system disorders, mental retardation, hyperactivity, aggressive behavior
10
Q

Morquio (MPS IV)

A
  • Enzyme Deficiency:
    • ​A = Galactosamine-6-Sulfatase
    • B = β​-galactosidase
  • Accumulation: keratan sulfate
  • S/Sx: Short trunk dwarfism, corneal opacities, normal intelligence
  • Tx: Vimizim (IV A)
11
Q

Maroteaux-Lamy (MPS VI)

A
  • Defiency: Arylsulfatase B
  • Accumulation: Dermatan Sulfate
  • S/Sx: normal intelligence, skeletal deformities, large head, cx deformity, corneal clouding
  • Tx: Naglazyme
12
Q

Sly (MPS VII)

A
  • Deficiency: β-glucuronidase
  • Accumulation: Dermatan and Heparan sulfate
  • S/Sx: hepatosplenomegaly, skeletal deformity, short stature, corneal clouding, mental deficiency
13
Q

Hunter (MPS II)

A
  • Deficiency: Iduronate Sulfatase
  • Accumulation: Heparin and Dermatan sulfate
  • S/Sx: X-Linked Recessive, mental retardation, coarse facial features, short stature, dystosis multiplex, NO CORNEAL CLOUDING
  • Tx: Elaprase
14
Q

Hurler (MPS I)

A
  • Deficiency: α-I-iduronasidase
  • Accumulation: Dermatan and Heparin Sulfate
  • S/Sx: corneal clouding, dysmorphic gargoyle-like facies, hepatosplenomegaly, skeletal abnormalities, mental impairment, chronic rhiniris, hernia, claw hands, conductive deafness, dysostosis multiplex (Hurler-Schie and Schie are less severe - no neuro impairment)
  • Tx: Aldurazyme
15
Q

I-Cell Disease (ML II)

A
  • Category: Mucolipidoses
  • Deficiency: UDP-NAglucosamine Phosphotransferase (defective enz that synthesizes Man-6-P)
  • S/Sx: Coarse face, thick skin/lips, hepatomegaly, joint issues
16
Q

Pseudo-Hurler Polydystrophy (ML-III)

A
  • Category: Mucolipidoses
  • Defiency: enz that makes Man-6-P (some residual activity, more mild than I-Cell)
  • S/Sx: coarse features, stiffness
17
Q
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