X-linked adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and und
Key facts
- Medical condition.name
- Adrenoleukodystrophy
- Medical condition.synonyms
- X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease
- Medical condition.image
- Adrenoleukodystrophy.jpg
- Medical condition.caption
- White matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.
- Medical condition.field
- Medical genetics
- Medical condition.types
- X-Linked ALD
via Wikipedia infobox
Research
2,959 papers- X-linked adrenoleukodystrophy and primary adrenal insufficiency.Frontiers in endocrinology · 2023
- ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.Human mutation · 2001
Article
16 sectionsContents
- Signs and symptoms
- Male adrenoleukodystrophy phenotypes
- Female adrenoleukodystrophy phenotypes
- Genetics
- Pathogenesis
- Diagnosis
- Treatments
- Dietary therapy
- Transplant
- Gene therapy
- Drugs
- Adrenal insufficiency
- Epidemiology
- Asymptomology
- References
- External links
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions.
Clinically, ALD presents as a heterogeneous disorder, showing several distinct phenotypes, and no clear pattern of genotype–phenotype correlation. As an X-linked disorder, ALD presents more frequently and severely in males; however, approximately 80% of heterozygote females show some symptoms later in life. Approximately one third of male ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in timing of onset and in clinical severity, ranging from adrenal insufficiency alone to progressive paraparesis in early adulthood.