Disease : X-linked adrenoleukodystrophy

Name : X-linked adrenoleukodystrophy
Description : Severe X-linked demyelinating disorder due to mutations in the ALD protein, presumably implicated in the transport of VLCFAs into the peroxisome. Prevalence is about one in 20000 males. Six categories of symptoms:

1) Childhood cerebral ALD (CCALD): aprox. 30% of the patients. Up to the point of onset (5 to 10 years), development is normal. The most common initial symptoms are difficulties in school, behavioral disturbances, impaired vision or hearing. After initial neurological symptoms appear, the health of the patients deteriorates rapidly, and demyelination leads to death.

2) Adolescent cerebral (ALD): the symptoms and progression of the disease are similar to those of childhood cerebral ALD.

3) Adult cerebral (ALD): relatively rare. The age of onset varies from the twenties to the fifties. The symptoms are similar to those of schizophrenia with dementia. Rapid progression of the disorder.

4) Adrenomyeloneuropathy (AMN): aprox. 40-45% of the patients. The most common ALD phenotype. Initial symptoms are stiffness/clumsiness in the legs, weight loss, attacks of nausea, and generalized weakness. The disease progresses slowly.

5) Symptomatic heterozygotes: 20% of heterozygous women do show some symptoms of AMN. The symptoms can range from very mild to very severe, although heterozygote women rarely have impaired adrenal function or brain involvement.

6) Adrenal insufficiency-only: aprox. 10% of the patients. The symptoms ressemble Addison disease.
Gene(s) :
Localization(s) :
  • Peroxisomal membrane
Functional category(ies) :
Links of Interest: