By Kate TolstykhFreddy Rojas

Sergio Tomita

What is Adrenoleukodystrophy?A rare, X-chromosome linked

genetic disease passed from a parent to the child

Adreno refers to the adrenal glandsLeuko refers to the white matter of

the brainDystrophy is a disorder

Who is affected?Affects approximately 1 in 20,000 males from all races

What are the causes?Long- chain fatty acids build up in

the nervous system, adrenal glands, and testes, and disrupt regular body activity

ALD can be detected through a special blood test that can reveal the presence of very high levels of very long chain fatty acids.

What happens?The build-up of the very long-chain fatty

acids causes the loss of myelin in the brain.Myelin – a phospholipid protective layer

that surrounds the axon of a nerve cell

What happens next?Due to demyelination, white matter of

the brain goes through progressive neurological deterioration

Myelin sheath is stripped from brain’s nerve cells, reducing in brain’s activity

Neurons are not able to tell muscles and other central nervous system what to do

What are the categories?

Childhood cerebral form – children at ages 4 – 8

Adrenomyelopathy – men in their twenties

Addison disease – adrenal glands do not produce enough steroid hormones

Childhood cerebral type symptomsAdrenal problems Changes in muscle toneCrossed eyesDecreased understanding of verbal communication Deterioration of handwriting Difficulty at school Difficulty understanding spoken material Hearing loss Hyperactivity Progressive nervous system deterioration

Coma Decreased fine motor control Paralysis

Seizures Swallowing difficulties Visual impairment or blindness

Adrenomyelopathy symptoms

Adrenal problems Difficulty controlling urination Possible worsening muscle weakness or

leg stiffness Problems with thinking speed and visual

memory

Addison type symptoms

Coma Decreased appetite Increased skin pigmentation Loss of weight, muscle mass Muscle weakness Vomiting

What is the cure for ALD?A specific treatment for ADL is not available,

therefore a cure hasn’t been found yetIf ALD is present since birth, the patient will

die by age of 1 to 5. Otherwise, death usually occurs within 1 to

10 years after the onset of symptoms. There are exceptions, however, and most

men with the adult-onset form of ALD can maintain successful personal and professional lives.

What are the treatments?Usually patients with adrenal problems are

treated with hormonesBone marrow transplant is also being tested

as a cureA product called Lorenzo’s oil is tested, but

has not proven yet to cure the diseaseNamed for the son of the family who

discovered this treatment, the oil is supposed to reduce the levels of long-chain fatty acids

How can it be prevented?Genetic counseling is recommended for

prospective parents with a family history of X-linked adrenoleukodystrophy.

Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by amniocentesis.

Amniocentesis is procedure performed by inserting a hollow needle through the abdominal wall into the uterus and withdrawing a small amount of fluid from the sac surrounding the fetus

Works usedwww.nlm.nih.gov/medlineplus/ency/article/

001182.htm www.umm.edu/ency/article/001182.htm rarediseases.about.com/cs/ald/a/041301.htmwww.aldfoundation.org www.ulf.org/types/XALD.htmlwww.stopald.org/ald/whatisald.asphttp://www.medfriendly.com/

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