IllnessAdrenoleukodystrophy, X linked

NGS +

The symptoms of X-linked adrenoleukodystrophy are based on demyelination in the CNS and adrenocortical changes with weakness, weight loss, skin changes, vomiting and possibly coma. The very long chain fatty acids (VLCFA) are elevated in plasma. Children with the cerebral form (1/3 of patients) have learning and behavioral problems beginning between 4-10 years of age as well as other neurologic abnormalities with variable progression. The adrenomyeloneuropathy type (at least 40%) becomes symptomatic in early to middle adulthood with paraparesis, urinary/genital tract disorders, behavioral problems and adrenal insufficiency. Morbus Addison, the "pure" form of adrenocortical insufficiency, can begin at any time between childhood and adulthood, usually with additional features of adrenomyeloneuropathy. In addition, less frequently mild forms can be distinguished, and variability is observed within a family as well. There is 100% penetrance in males, 20% of female mutation carriers usually show mild symptoms. DNA sequence analysis identifies pathogenic variants in about 60% of patients and deletions/duplications in very few % of subjects. Inconspicuous genetic findings do not exclude the clinical suspected diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1315/

• Adrenomyeloneuropathy, adult (ABCD1)
• Alias: Addison disease + cerebral sclerosis (ABCD1)
• Alias: Bronze Schilder disease (ABCD1)
• Alias: Melanodermic leukodystrophy (ABCD1)
• Alias: Siemerling-Creutzfeldt disease (ABCD1)