X-linked adrenoleukodystrophy

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Definition

Broadly speaking, three distinct subtypes of X-linked adrenoleukodystrophy are described: a childhood cerebral form, an adrenomyeloneuropathy type and an Addison’s disease only form.



Aetiology

None

Associated genes

Gene
ABCD1 Search ClinVar Search ClinGen


Associated Disorders




Clinical features


None

X-linked adrenoleukodystrophy may cause the following:




Investigations


X-linked adrenoleukodystrophy causes a build up of very long chain fatty acids which can be detected in the serum. Elevated concentrations of hexacosanoic acid (C26:0) with normal concentrations of phytanate and pristanate are the characteristic findings.


Laboratory Investigation Result

Treatment


Possible therapeutic options include stem cell transplant if the disease is identified early enough. Trials of leriglitazone are ongoing.




Research


Open questions

None