Disease condition name: Adrenoleukodystrophy
Also Known As:
Pronounced As: uh-dree-noh-loo-kuh-dis-truh-fee /?h?p ??ta? t?s/
One Line Description: It’s a genetic disorder characterized by damage to nerve
tissue and adrenal gland dysfunction.
ABCD1 gene in the X chromosome
hearing loss, muscle spasms, seizures, crossed eyes, coma, vomiting
bone marrow transplant, gene therapy and hormone replacement
Sample Value example
1 in 18000
Lab test or Imaging required
requires lab test or imaging.
it takes to cure
it spread & how
not known to
common for ages 5 and younger,
it be fatal/deadly (prognosis)
types can be dangerous or life threatening
history may increase likelihood.
it need emergency attention
medical attention recommended.
Other fact 1-
Other fact 2-
The X linked trait in Adrenoleukodystrophy(ALD)
it’s common in males because they have only one X chromosome. Females are
mostly carriers of the trait and are mostly asymptomatic or may show few
symptoms of ALD.
three types of adrenoleukodystrophy
Childhood cerebral demyelinating ALD
Occurs mostly in males between 4 and 10 years
Occurs later in life in most patients
It’s characterized by progressive neuropathy.
of adrenoleukodystrophy vary depending on the tissue affected and age of the
depends on type of ALD
Childhood cerebral ALD symptoms
Adrenal gland failure symptoms
is caused by mutation of ABCD1 gene
found on the X chromosome.
Abnormal ABCD1 gene leads to the formation of ALDP protein that breaks
down long chain fatty acids.
The build-up of fatty
acids in the body leads to
damage to nerve tissues
How it doesn’t
test to analyze levels of long chain fatty acids
testing to determine mutation of the ABCD1 gene
is important in identifying carriers of the trait
for cerebral imaging
Adrenoleukodystrophy isn’t curable. However, several treatment
methods help manage symptoms depending on the type of ALD.
Lorenzo’s oil helps to normalize levels of long
chain fatty acids in the body
Cortisol to treat adrenal dysfunction
II. Surgery / Medical Procedures
Bone marrow transplant was done
at early stages of the disease
Diet that is low on fatty acids e.g. whole grain,
Physical therapy to strengthen muscles and reduce muscle spasms
ADL is a disease that is inherited
therefore cannot be prevented.
Food to eat &
Foods to eat
Grain and cereals
e.g. whole wheat, bagels, oatmeal
Low -at food such as fruits and
Foods to avoid
High-fat foods e.g. eggs, cheese, nuts,
olive oil, fatty fish
Specialist that one should meet if they have this condition:
Specializes in neuronal tissues and can be consulted to determine the extent of neuronal damage and treatment.
Specializes in endocrine glands and may help in managing adrenal insufficiency
Specializes in blood health and can be consulted on bone marrow
Acute adrenal crisis
Characterized by very low levels of cortisol due to adrenal gland
Questions to ask your Doctor
I go for genetic testing?
What dietary changes should I make?
Are there specialists that I should consult?