kelainan terpaut kromosom X dengan ciri abnormalitas massa putih otak yang difus dan atrofi adrenal.

Merriam-Webster Online Dictionary
adrenoleukodystrophy (noun)
a rare demyelinating disease of the central nervous system that is inherited as a sex-linked recessive trait chiefly affecting males in childhood and that is characterized by progressive blindness, deafness, tonic spasms, and mental deterioration - abbreviation ALD
adrenoleukodystrophy (Wikipedia)
For the autosomal recessive, neonatal onset disease, see Neonatal adrenoleukodystrophy
White matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.
Classification and external resources
Specialty Medical genetics
ICD-10 E71.3
ICD-9-CM 330.0, 277.86
OMIM 300100 202370
DiseasesDB 292
MedlinePlus 001182
MeSH D000326

Adrenoleukodystrophy (/-ˌlu-k-ˈdis-trə-f/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by the relevant enzymes not functioning properly, which then causes damage to the myelin sheathes of the nerves, resulting in seizures and hyperactivity. Other side effects include problems with speaking, listening, and understanding verbal instructions.

In more detail, it is a disorder 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. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of 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 terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy).

ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly cerotic acid (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. Dietary treatment is with Lorenzo's oil. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic groups.