X-linked adrenoleukodystrophy

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Related to adrenoleukodystrophy: Lorenzo's Oil

X-linked adrenoleukodystrophy

[¦eks ‚liŋkt ə‚drē·nō‚lü·kə′dis·trə·fē]
(medicine)
An inherited peroxisomal disorder in which a defective peroxisomal membrane protein results in impaired ?-oxidation of very long chain fatty acids, which subsequently accumulate in the adrenal glands, nervous system, and testes and disrupt normal activity.
References in periodicals archive ?
Adrenoleukodystrophy presenting as addison'sdisease in children and adults.
Uncommon cause of acute adrenal failure/Akut surrenal yetersizliginin seyrek rastlanan bir nedeni
It also reviews key players involved in the therapeutic development for Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex).
Research and Markets: Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Pipeline Review, H2 2012
The exact impact of inclusion of X-linked adrenoleukodystrophy on the uniform newborn screening panel cannot be completely predicted, but based on the information that we already have, we can estimate it will have a significant impact on the acute and sometimes catastrophic effects of adrenal insufficiency and will reduce the numbers of boys with ALD who are ineligible for the life- saving therapy of bone marrow transplantation because they are identified at a time when the brain disease is too advanced.
The fight for A national newborn screening For x-linked ADRENOLEUKODYSTROPHY: In 2005, Dr. Hugo Moser suggested to the national newborn screening committee that ALD be added to the list of disorders that would benefit from newborn screening. However, at that time, there was no test for ALD utilizing the sample collected on all newborns, the heel stick blood spot on filter paper
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Difficulties with diagnosis and differential diagnosis in childhood cerebral phenotype of adrenoleukodystrophy: a case report/Cocukluk cagi serebral tip adrenolokodistrofi'de tani ve ayirici tani zorluklari: bir olgu sunumu
As a paediatric registrar I tried to get my head around the different types of adrenoleukodystrophy, but it did not prepare me to manage my first case.
Caring for children with life-limiting and life-threatening illnesses: what the GP should know: 'life has meaning only in the struggle. Triumph or defeat is in the hands of the Gods. So let us celebrate the struggle.' (Swahili warrior song featured in the 1992 film Lorenzo's Oil, the story of parents' struggle to deal with a child suffering from adrenoleukodystrophy.)
Little Marc Elliott, who is battling the deadly disease Adrenoleukodystrophy has also been left with "tunnel vision" after losing some of his eyesight following his long-awaited bonemarrow transplant.
TRANSPLANT BOY'S BODY REJECTS ORGAN; Marc, 5, battling for his life
Washington, Nov 6 (ANI): Scientists are reporting a new breakthrough in the ongoing battle against a fatal brain disease called adrenoleukodystrophy using gene therapy.
Gene therapy helps two kids suffering from fatal brain disease
Alfie is the youngest person in the country to inherit a genetic disorder called adrenoleukodystrophy (ALD), which affects only 1 in 40,000 people.
Alfie's illness always preys on our minds; PARENTS WAIT ON SON'S PLIGHT
Navarro had "suffered from adrenoleukodystrophy, which causes damage to the nervous system and muscular system.
Jesting pilate
Lorenzo was six when it was discovered had adrenoleukodystrophy caused by a genetic mutation that breaks down the nervous system.
Lorenzo Oil boy dies at 30
Scott and Nicola Smith's children ( Connor, eight, Callum, six, and five-year-old Jack ( all suffer from Adrenoleukodystrophy, or ALD.
Parents will not give up
The film tells the story of a Lorenzo Odone, a young boy affected by the degenerative disease Adrenoleukodystrophy, known as ALD.
Olive oil reduces breast-cancer risk, scientists find
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