Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
- Delayed neurological development
- Cross eyed
The diagnosis is established by clinical findings and the detection of serum very long-chain free fatty acid levels.
MRI examination reveals white matter abnormalities, and neuro-imaging findings of this disease are somewhat reminiscent of the findings of multiple sclerosis.
Genetic testing for the analysis of the defective gene is available in some centers.
Neonatal screening may become available in the future, which may permit early diagnosis and treatment.
Approximately 1 in 20,000 boys are diagnosed with ALD.
While there is currently no cure for the disease, some dietary treatments, for example, a 4:1 mixture of glyceryl trioleate and glyceryl trierucate (Lorenzo's oil) in combination with a diet low in VLCFA, have been used with limited success, especially before disease symptoms appear. A 2005 study shows positive long-term results with this approach. A 2007 report also appraises "Lorenzo's oil". See also the Myelin Project. X-linked adrenoleukodystrophy has a very variable clinical course, even within a single family. It is therefore not possible to determine if Lorenzo's oil is preventing progression of the disease in asymptomatic patients, or if these patients would have remained asymptomatic even without treatment. Current double blind placebo-controlled trials may be able to answer the questions regarding the effectiveness of treatment.