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Boards Review Cards 2016 > Lysosomal Storage Disorders > Flashcards

Lysosomal Storage Disorders Flashcards

1
Q

Batten Disease

A

Autosomal recessive neurodegenerative disease caused by buildup of lipofuscins

Results in Huntington-like behavioral changes and neurodegeneration in children. Death between ages 6-teens

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2
Q

Gaucher Disease - Inheritance and Metabolics

A
  • Inheritance: Autosomal recessive
  • Gene: GBA
  • Deficient enzyme: Glucocerebrosidase
  • Excess metabolite: Glucocerebroside
  • Most common disease in the Ashkenazi Jewish population!!!
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3
Q

Gaucher Type I

A
  • Least severe
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Pulmonary hypertension
  • Gaucher cells/bone crises
  • Erlenmeyer flask deformity
  • No CNS involvement
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4
Q

Gaucher Type II

A
  • Most severe
  • Bulbar and pyramidal signs
  • Intellectual disability
  • Convulsions
  • Hypertonia
  • Apnea
  • No bone disease/crises
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Pulmonary hypertension
  • Microscopic dermatologic abnormalities
  • Lifespan 2-4 years
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5
Q

Gaucher 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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6
Q

Gaucher Treatment

A

Enzyme replacement therapy

  • Cerezyme, VPRIV, Elelyso
  • Most effective for individuals with type I
  • Not effective for individuals with type II (ERT cannot cross the blood-brain barrier)
  • Improves some symptoms in individuals with type III

Substrate reduction therapy

  • Miglustat, eliglustat
  • For individuals with type I, some type III who cannot do ERT due to allergic reaction, hypersensitivity, or poor venous access
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7
Q

Tay-Sachs

A

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

Major features:

  • 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
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8
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
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9
Q

Fabry Disease

A

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

Major features:

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

Treatment:
-Fabrazyme enzyme replacement therapy

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10
Q

Krabbe Disease

A

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

Major features:

  • 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
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11
Q

Mucopolysaccharidosis (MPS) Inheritance and Metabolics

A

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

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12
Q

MPS Type I

A

Hurler Syndrome (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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13
Q

MPS Type 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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14
Q

MPS Type 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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15
Q

MPS Type IV

A

Morquio Syndrome

  • Severe skeletal phenotype
  • Short-trunked dwarfism
  • NORMAL INTELLECT
  • Chest deformities
  • Cardiac anomalies
  • Bone malformation
  • Macrocephaly
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16
Q

MPS Type VI

A

Maroteaux-Lamy syndrome

  • Coarse facial features
  • Skeletal anomalies
  • Short stature
  • Cardiac anomalies
  • Corneal clouding
  • NORMAL INTELLECT
17
Q

MPS Type VII

A

Sly syndrome

  • Developmental delay
  • Regresison
  • Cardiac anomalies
  • Hepatosplenomegaly
  • Coarse facial features
  • Recurrent ENT problems
18
Q

Niemann-Pick Inheritance and Metabolics

A

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

19
Q

Niemann-Pick Types A and B

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

Type B:

  • Similar symptoms, but later onset and milder
  • Cognitive function may be spared
20
Q

Niemann-Pick Type C

A
  • Hepatosplenomegaly
  • Dystonia
  • Dysphagia
  • Progressive neurological deterioration
  • Cerebellar ataxia
  • Dysarthria
  • Dysphagia
  • Vertical supranuclear gaze palsy
  • Dystonia
  • Psychosis
  • Progressive hearing loss
  • Onset from infantile to adult
21
Q

Pompe Disease (Glycogen Storage Disease Type II)

A

Inheritance: Autosomal recessive
Gene: GAA
Deficient enzyme: Alpha-glucosidase

Infatile onset:

  • Cardiomegaly
  • Hypotonia
  • Cardiomyopathy
  • Respiratory distress
  • Recurrent respiratory infections
  • Death in 1st year of life if untreated

Late onset:

  • Slowly progressive proximal muscle weakness
  • Can mimic limb-girdle muscular dystrophy
  • Hypotonia
  • Impaired cough
  • Delayed motor milestones
  • Dysphagia

Treatment:

  • Myozyme ERT for infantile onset
  • Lumizyme ERT for late onset

Boards Review Cards 2016 (29 decks)

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