X-linked adrenoleukodystrophy

Clinical presentation and guidelines for diagnosis, follow up and management

orphanet.PNG

This is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder. Click here for more information.

Clinical, metabolic, genetic and pathophysiological aspects 

This article in BIOCHIMICA ET BIOPHYSICA ACTA also looks at this condition with emphasis on the genetic cause of the condition. Click here for the full article.

orphanet.PNG

Adrenomyeloneuropathy

Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.

X-ALD estimated birth incidence is 1/20,000. AMN manifests in more than 60% of female patients in adulthood and nearly all male patients who reach adulthood. Click here to be taken to the Orphanet e-article.