Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

hema finals (week 14) > lysosomal storage diseases > Flashcards

lysosomal storage diseases Flashcards

1
Q

NP

  • Mutationsin the NPC1 or NP2 gene
  • Causes impaired cellular trafficking and homeostasis of cholesterol ; buildup of unesterified cholesterol in lysosomes
  • Clinical presentation is heterogeneous with regard to age of onset and type and severity of neurologic and psychiatric symptoms, as well as visceral involvement

Prognosis is poor, with most patients dying before the age of 25 years

A

type C NP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q
  • Characterized by accumulation of sphingomyelin in cellular lysosomes in the liver, spleen, and lungs
  • Deficiency in the enzyme acid sphingomyelinase (ASM)
  • Associated with foam cells and sea-blue histiocytes in the bone marrow
A

niemann-pick’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

lipid storage disease

  • deficient enzyme: hexosaminidase B
  • accumulated substance: globosides
A

sandhoff’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

lipid storage disease

  • deficient enzyme: beta-galactosidase
  • accumulated substance: galactocerebroside
A

krabbe’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

MPS

  • enzyme deficiency: a-l-iduronidase
  • clinical features: coarse facies, short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, frequent upper respiratory infections, cognitive impairment; death before 10 years old
A

hurler syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

lipid storage disease

  • deficient enzyme: hexosaminidase A
  • accumulated substance: GM2-gangliosides
A
  • tay-sach’s disease
  • sandhoff’s disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q
  • Are qualitative disorders involving monocytes and macrophages
  • The macrophages are particularly prone to accumulate undegraded lipid products, which subsequently leads to an expansion of the reticuloendothelial tissue

EXAMPLES:
* GAUCHER’SDISEASE
* NIEMANN-PICK’S DISEASE

A

lipid storage diseases/sphingolipidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

MPS

  • enzyme deficiency: a-l-iduronidase
  • clinical features: hepatomegaly, joint contractures, cardiac valve abnormalities, corneal clouding; prolonged survival but with disability
A

scheie syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

MPS

  • enzyme deficiency: heparan N-sulfatase
  • clinical features: hirsutism, coarse facial features, behavioral problems, aggressive behavior, speech delay, hepatomegaly; most die before 20 years old
A

sanfilippo syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MPS

  • enzyme deficiency: heparan acetyl-coa: a-glucosaminidase, N-acetyltransferase
  • clinical features: delayed psychomotor development, behavioral problems, sleeping/hearing problems, coarse facial features, recurrent infection, diarrhea, epilepsy, and retinitis pigmentosa
A

sanfilippo syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q
  • Are a family of inherited disorders of mucopolysaccharide or glycoaminoglycan (GAG) degradation
  • Each MPS is caused by deficient activity of an enzyme necessary for the degradation of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate
  • The partially degraded material builds up in lysosomes and results in serious physical and cognitive problems and shortened survival
  • Presence of Alder-Reilly bodies in neutrophils, monocytes, and lymphocytes ; macrophages in the bone marrow canalso demonstrate cytoplasmic metachromatic material
A

mucoplysaccharidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

lipid storage disease

  • deficient enzyme: arylsulfatase A
  • accumulated substance: sulfatide
A

metachromatic leukodystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

lipid storage disease

  • deficient enzyme: alpha-galactosidase
  • accumulated substance: ceramide trihexoside
A

fabry’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

lipid storage disease

  • deficient enzyme: ceramidase
  • accumulated substance: ceramides
A

farber’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

NP

  • Non-neuronopathicform ; more common in individualsof Northern African descent
  • 10-20%normalenzyme activity ; mutation in the SMPD1 gene
  • Presents in the first decade to adulthood with a variable clinical course
  • Although there is no neurocognitive impairment, patients experience massive hepatosplenomegaly, heart disease, and pulmonary insufficiency
A

type B NP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

NP

  • Acuteneuronopathic form ; affects mostly Eastern European Jews
  • <5%normalsphingomyelinase activity ; mutation in the SMPD1 gene
  • Present in infancy and is associated with failure to thrive, lymphadenopathy, hepatosplenomegaly, vision problems, and rapid neurodegenerative decline that results in death, usually by 4 years of age
A

type A NP

17
Q
  • Are a group of more than 50 inherited enzyme deficiencies resulting from mutations in genes that code for the production of lysosomal enzymes
  • The result is flawed degradation of phagocytized material and buildup of undigested substrates within lysosomes
  • This causes cell dysfunction, cell death, and a range of clinical symptoms; all cells containing lysosomes can be affected
  • areclassified according to the underdegraded macromolecule that accumulates in the cell
A

lysosomal storage diseases

18
Q
  • Mostcommonofthelysosomal lipid storage diseases ; at least 1 in 17 Ashkenazi Jews are carriers
  • It is an autosomal recessive disorder caused by a defect or deficiency in the catabolic enzyme beta-glucocerebrosidase
  • Accumulation in sphingolipid glucocerebroside in macrophages throughout the body, including osteoclasts in bone and microglia in the brain
  • Bone marrow replacement contribute to anemia and thrombocytopenia
A

gaucher’s disease

19
Q

can be found in bone marrow of some patients with thalassemia, chronic myeloid leukemia, acute lymphoblastic leukemia, non-Hodgkin lymphoma, and plasma cell neoplasms

A

pseudo-gaucher cells

20
Q

lipid storage disease

  • deficient enzyme: GM1-Beta-Galactosidase
  • accumulated substance: GM1-gangliosides
A

GM1-gangliosidosis

21
Q

MPS

  • enzyme deficiency: iduronate sulfatase
  • clinical features: coarse facial features, short stature, skeletal deformities, joint stiffness, mental retardation
A

hunter syndrome

22
Q

MPS

  • enzyme deficiency: galactose-6-sulfatase, B-galactosidase
  • clinical features: musculoskeletal abnormalities, short stature, pulmonary and cardiac dysnfunction, hearing loss corneal clouding; most die before 30 years old
A

morquio syndrome

23
Q

MPS

  • enzyme deficiency: a-N-acetylglucosaminidase
  • clinical features: cardiomegaly, coarse facial features, progressive dementia, convulsions, survive into 20s, 30s
A

sanfilippo syndrome

hema finals (week 14) (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions