Adrenoleukodystrophy

Alternative Names

  • ALD
  • Addison Disease and Cerebral Sclerosis
  • Adrenomyeloneuropathy
  • AMN
  • Siemerling-Creutzfeldt Disease
  • Bronze Schilder Disease
  • Melanodermic Leukodystrophy
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

300100

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq28

Description

X-linked adrenoleukodystrophy is both the most frequent genetically inherited demyelinating disorder and the most frequent peroxisomal disorder.  It  shows extreme clinical heterogeneity, even within the same kindreds. Adrenal insufficiency (Addison's disease) is probably the only clinical manifestation of adrenoleukodystrophy while the main biochemical abnormality of adrenoleukodystrophy is an impairment of very long chain fatty acid (VLCFA)b-oxidation in the peroxisomes, resulting in the accumulation of VLCFA cholesterol esters in the adrenal gland and in the white matter of the brain.

Defects in ATP-Binding Cassette Subfamily D Member 1 (ABCD1) gene are the cause of the condition. 

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300100.1.1TunisiaMaleYesNo Gait disturbance; Reduced visual acuity...NM_000033.3:c.947A>CHemizygousX-linked, RecessiveKallabi et al. 2016 Sibling of 300100.1....
300100.1.2TunisiaMaleYesNo Reduced visual acuity; Multifocal seizu...NM_000033.3:c.947A>CHemizygousX-linked, RecessiveKallabi et al. 2016 Sibling of 300100.1....
300100.2LebanonFemale Developmental regression; Hearing impa...NM_000033.4:c.1813C>GHomozygousX-linked, RecessiveNair et al. 2018
300100.3United Arab EmiratesUnknownNM_000033.4:c.309C>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014

Other Reports

Lebanon

Sawaya et al. (1999) reported a case of adrenoleukodystrophy in a 26-year-old man. He had Addison's disease, vitiligo and severe ulcerative colitis. Two siblings had brother and sister had VLCFA in their serum.

Saudi Arabia

Al-Essa et al. (2000) conducted a restrospective study to evaluate the data of 10 patients from Saudi Arabia with X-linked adrenoleukodystrophy regarding the clinical, biochemical, neuroradiological, and neurophysiological findings. They concluded that the disease is more common in Saudi Arabia than had been previously recognized due to phenotypic variability and a wide spectrum of presentations.

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