CELL BIOLOGY BBT221004

Lysosomal storage diseases or disorders (LSDs) are rare genetic conditions that cause a
buildup of toxic materials in your body’s cells. People with LSDs lack certain enzymes or a
substance that helps the enzyme work (enzyme activator or modifier). Without functioning
enzymes, your body can’t break down fats and sugars and other substances. If those build up
in your body, they can be harmful.

Lysosomal storage diseases usually appear during pregnancy or soon after birth. More rarely,
adults may develop LSDs. People usually have more severe cases when an LSD starts early
and more mild cases when an LSD starts later.

There are no cures for lysosomal storage diseases. But treatments can help you to manage
your symptoms and lessen damage to organs and tissues.

POMPE DISEASE :

Pompe disease is a genetic disorder in which complex sugar called glycogen builds up
in the body’s cells. The disease results from the deficiency of an enzyme called acid
alfa glucosidase (GAA), which breaks downs complex sugars in the body. This
buildup occurs in organs and tissues, especially in muscles, causing them to break
down.

 CAUSES :

 Mutations in
the GAA gene.
 Deficiency of
Acid Aalfa
Glucosidase.

 SYMPTOMS :

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 Weak muscles
 Poor muscle tone
 Enlarged liver
 Failure to gain weight and grow at the expected rate (failure to
thrive)
 Trouble breathing
 Feeding problems
 Infections in the respiratory system
 Problems with hearing

 Diagnoses :

 A blood sample is taken and enzymes in the blood are studied and
counted.
 Confirmation is made via DNA testing. Other tests include:

 Taking of a complete patient and family history

 Breathing tests to measure lung capacity
 Electromyography

 Treatment :

 Enzyme replacement therapy (ERT) is an approved treatment for

all Pompe patients. A drug called alglucosidase alfa is given
intravenously (through the patient’s vein). It is a genetically
engineered enzyme that acts like the naturally occurring acid alfa
glucosidase enzyme.
 Specialist teams (heart doctors, respiratory therapists, neurologists,
etc.) can treat symptoms and offer supportive care for those with
Pompe disease. Ask your doctors about details for each specific
case.

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 Prevention :

 As this is a genetic disease it cannot currently be prevented.

Supportive treatment and care are available.

Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas
like the spleen, liver and bone marrow. A person will get Gaucher Disease if both
parents are carriers of the disease. It is
one of the most common lysosomal
storage disorders.

 Causes :
 low levels of
glucocerebrosidase
(GCase), an
enzyme that breaks
down a fatty
chemical in the body called glucocerebroside.
 Both parents must be carriers of a Gaucher changed (mutated)
gene for their child to inherit the condition.
 Symptoms:
 Abdominal complaints
 Skeletal abnormalities. Gaucher disease can weaken bone,
increasing the risk of painful fractures.
 A decrease in healthy red blood cells (anemia) .
 severe fatigue
 easy bruising and nosebleeds.

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 More rarely, affects the brain, which can cause abnormal eye
movements, muscle rigidity, swallowing difficulties and seizures.
 Diagnoses :
 Physical exam (compare height and weight ,size of liver and
spleen)
 Dual energy X-ray absorptiometry (DXA)
 Blood test
 MRI
 Treatment :
 Enzyme replacement therapy
 Eliglustat
 Miglustat
 Osteoporosis drug
 Spleen removal
 Bone marrow transplant
 Prevention :
 Not available

DANON DISEASE :
Danon disease is a condition characterized by weakening of the heart muscle
(cardiomyopathy); weakening of the muscles used for movement, called skeletal
muscles, (myopathy); and intellectual disability. Males with Danon disease
usually develop the condition earlier than females and are more severely affected.

 Causes :
 Mutations in the LAMP2 gene.
 Inherited in an x-linked dominant pattern
 Symptoms :

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 Cardiomyopathy
 Palpitations
 Arrhythmia
 chest pain
 Mild intellectual
disability
 Diagniosis :
 Molecular genetic testing
 Treatmemt:
 ICD therapy
 Gene therapy
 Prevention :
 As a genetic disorder,it has no prevention

KRABBE DISEASE :
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological
condition. It is part of a group of disorders known as leukodystrophies, which result
from the loss of myelin (demyelination) in the nervous system.

 Causes :
 Mutations in the GALC gene
 Enzyme called galactosylceramidase, which breaks down certain
fats called galactolipids
 Symptoms :
 Severe deterioration of mental and motor skills
 Muscle weakness
 Hypertonia
 Myoclonic seizures
 Spasticity
 Unexplained fever
 Blindness
 Difficulty with swallowing

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 Deafness

 Diagniosis :
 A blood test to learn
the amount of
galactosylceramidase
enzyme in the blood.

 An MRI scan
 Treatmemt:
There is no cure but ways to relieve symptoms.
 Medicine to help with muscle spasms and seizures.
 Physical therapy to help with movement.
 Occupational therapy to help with daily living activities.
 Palliative care .
 An umbilical cord blood transplant

 Prevention :
 Not available

SANFILIPPO SYNDROME :
This syndrome is a rare genetic metabolism disorder. A change in a single gene
makes a child's body unable to break down certain carbohydrates (sugars). This leads
to serious problems in the brain and nervous system.

 Causes :

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 Gene mutation
 Family history
 Symptoms :
 delayed speech
 behavior problems
 certain features of autism spectrum disorder
 intellectual disability
 seizures
 mildly coarse facial features
 macrocephaly
 macroglossia
 umbilical hernia or inguinal hernia
 hepatosplenomegaly
 Diagniosis :
 Prenatal screening
 Genetic testing
 Treatmemt:
 no approved therapies to reverse the effects of Sanfilippo syndrome

 Prevention :
 Not available

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REFERENCES :

 (cooper, 2022) https://www.healthgrades.com/

 (brenann, 2018) https://www.webmd.com/
 (hospital) https://www.chp.edu/our-services/rare-
disease-therapy/conditions-we-treat/krabbe-disease
 Danon disease: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/danon-
disease/#inheritance
 https://my.clevelandclinic.org/health/diseases/15808-
pompe-disease

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