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Lysosomal Storage Disease Flashcards

1
Q

Gaucher: Genetics

A

Inheritance: Autosomal recessive
Gene: GBA
Deficient enzyme: Glucocerebrosidase
Excess metabolite: Glucocerebroside

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2
Q

Gaucher Disease: Type I

A
  • Least severe
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Pulmonary hypertension
  • Gaucher cells/bone crises
  • Erlenmeyer flask deformity
  • No CNS involvement
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3
Q

Gaucher Disease: Type II

A
  • Most severe
  • Bulbar and pyramidal signs
  • Intellectual disability
  • Convulsions
  • Hypertonia
  • Apnea
  • No bone disease/crises
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Pulmonary hypertension
  • Dermatologic abnormalities
  • Lifespan 2-4 years
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4
Q

Gaucher Disease: Type III

A
  • Intermediate phenotype
  • Chronic neuropathic
  • Progressive myoclonic epilepsy
  • Oculomotor apraxia
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Pulmonary hypertension
  • Gaucher cells/bone crises
  • Erlenmeyer flask deformities
  • Survival into teens and adulthood
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5
Q

Gaucher Disease: Treatment

A

Enzyme replacement therapy
oCerezyme, VPRIV, Elelyso
oMost effective for individuals with type I
oNot effective for individuals with type II (ERT cannot cross the blood-brain barrier)
oImproves some symptoms in individuals with type III

Substrate reduction therapy
oMiglustat, eliglustat
oFor individuals with type I, some type III who cannot do ERT due to allergic reaction, hypersensitivity, or poor venous access

Most common disease seen in the Ashkenazi Jewish population

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6
Q

Mucopolysaccharidoses (MPS): Genetics

A

Inheritance: Autosomal recessive, X-linked
Gene: Many, type-specific
Excess metabolite: Glycosaminoglycans (GAGs)

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7
Q

MPS I

A 
Hurler Syndrome
    o	Milder form called Hurler-Sheie
•Developmental delay
•Intellectual disability
•Regression
•Hepatosplenomegaly
•Skeletal anomalies
•Short stature
•Cardiac anomalies
•Corneal clouding (doesn’t affect vision)
•Coarse facial features
•Hearing loss
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8
Q

MPS II

A 
Hunter Syndrome-->X-linked
•Developmental delay
•Intellectual disability
•Regression
•Skeletal anomalies
•Short stature
•Cardiac anomalies
•CLEAR CORNEAS
•Coarse facial features
•Hearing loss
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9
Q

MPS III

A 
San-Filippo Syndrome
•Milder skeletal phenotype
•Coarse facial features
•Progressive sleep and behavioral problems
•NO CARDIAC ANOAMLIES
•CLEAR CORNEAS
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10
Q

MPS IV

A 
Morquio Syndrome
•Severe skeletal phenotype
    oShort-trunked dwarfism
•NORMAL INTELLECT
•Chest deformities
•Cardiac anomalies
•Bone malformation
•Macrocephaly
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11
Q

MPS VI

A 
Maroteaux-Lamy syndrome
•Coarse facial features
•Skeletal anomalies
•Short stature
•Cardiac anomalies
•Corneal clouding
•NORMAL INTELLECT
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12
Q

MPS VII

A 
Sly syndrome
•Developmental delay
•Regresison
•Cardiac anomalies
•Hepatosplenomegaly
•Coarse facial features
•Recurrent ENT problems
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13
Q

MPS Treatment:

A

ERT is available and may treat visceral symptoms, but cannot treat cognitive symptoms in types I, II, III, and VII because it cannot cross the BBB

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14
Q

Niemann-Pick Disease: Genetics

A

Inheritance: Autosomal recessive
Gene: SMPD1, NPC1
Deficient enzyme: Acid sphingomyelinase
Excess metabolite: Sphingomyelin

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15
Q

Niemann-Pick Disease, Type A

A 
Type A:
•Hepatosplenomegaly
•Failure to thrive
•Progressive nervous system deterioration
•Profound brain damage
•Development stops at 12 months and regresses
•Pulmonary insufficiency
•Recurrent lung infections
•Cherry-red spot on ophthalmologic exam
•Death by age 3
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16
Q

Niemann-Pick Disease, Type B

A

Type B:
•Similar symptoms, but later onset and milder
•Cognitive function may be spared

17
Q

Niemann-Pick Disease, Type C

A 
Type C:
•Hepatosplenomegaly
•Dystonia
•Dysphagia
•Progressive neurological deterioration
•Cerebellar ataxia
•Vertical supranuclear gaze palsy
•Psychosis
•Progressive hearing loss
•Onset from infantile to adult
18
Q

Tay Sachs Disease: Genetics

A

Inheritance: Autsomal recessive
Gene: HEXA
Deficient enzyme: Hexosaminidase A

19
Q

Tay Sachs Disease: Major Features

A
  • Normal development up to ~6 months of age followed by progressive neurodegeneration
  • Failure to achieve motor milestones/motor regression
  • Loss of responsiveness
  • Visual deterioriation
  • Seizures
  • Progressive head enlargement due to cerebral gliosis
  • Recurrent infections
  • Difficulties swallowing
  • CHERRY RED SPOT ON OPHTHALMOLOGIC EXAM
  • Average lifespan is ~2 years
20
Q

Adult-onset Tay-Sachs

A 
NO CHERRY RED SPOT
•Slowly progressive neurodegeneration
•Progressive muscle wasting
•Dysarthria
•Fasciculations
•Cognitive dysfunction
•Dementia
•Psychiatric problems
•Psychosis
•Can be indistinguishable from progressive adolescent-onset SMA or ALS
21
Q

Krabbe Disease: Genetics

A

Inheritance: Autosomal recessive
Gene: GALC
Deficient enzyme: Galactosylceramidase
Excess metabolite: Psychosine

22
Q

Krabbe Disease: Major Features

A
  • Normal appearance at birth
  • Symptom onset at 3-6 months
  • Irritability
  • Fevers
  • Stiffening of limbs
  • Seizures
  • Feeding difficulties/vomiting
  • Mental and motor delay
  • Muscle weakness
  • Spasticity
  • Deafness
  • Optic atrophy and blindness
  • Paralysis
  • Death by age 2
23
Q

Fabry Disease: Genetics

A

Inheritance: X-linked
Gene: GLA
Deficient enzyme: Alpha-galactosidase
Excess metabolite: Globotriaosylceramide (GL-3)

24
Q

Fabry Disease: Major Features

A 
•Acroparathesias (pain and tingling in limbs)
•Fabry pain crises
•Angiokeratomas
•Anhidrosis/hypohidrosis
•Corneal whorl
•Left-ventricular hypertrophy
•GI problems
•Renal insufficiency
   oProtein urea
•Depression secondary to chronic pain
•FEMALES CAN BE AFFECTED
25
Q

Fabry Disease: Treatment:

A

Fabrazyme enzyme replacement therapy
Enzyme analysis is only useful for diagnosis in males
A major psychosocial issue in Fabry families is placing emphasis on males and their suffering, subsequently ignoring issues of chronic pain, depression, and other symptoms in affected females

26
Q

Danon Disease

A 
Inheritance: X-linked dominant
Gene: LAMP2
Major features:
•Hypertrophic cardiomyopathy
•Wolff-Parkinson-White conduction abnormality
•Skeletal muscle myopathy
•Visual/retinal pigment disturbances
•Intellectual disability (usually absent in females)
27
Q

Batten Disease

A

Inheritance: Autosomal recessive
Genes: PT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD, DNAJC5, CTSF, ATP13A2, GRN, KCTD7
Deficient enzymes: Palmitoyl-protein thioesterase 1, tripeptidyl-peptidase 1, Cathepsin D
Excess metabolite: Lipofuscins

28
Q

Batten Disease: Major Features

A 
Major features:
•Neurodegeneration
•Symptom onset in childhood
•Vision problems
•Seizures
•Personality and behavioral changes
•Echolalia
•Clumsiness
•Poor growth
•Poor circulation to lower extremities
•Decreased body mass
•Breath-holding spells
•Bruxism
•Disabling neurodegeneration leading to death between ages 6 to teenage years

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