Clinical presentation and guidelines for diagnosis, follow up
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
Clinical, metabolic, genetic and pathophysiological
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.
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.