Adrenoleukodystrophy: An Overview of a Rare Genetic Disorder

Abstract

Adrenoleukodystrophy (ALD) is caused by an X-linked inborn error of metabolic disorder due to the mutation of ATP binding cassette subfamily D member 1 (ABDC 1) gene. Three types of ALD cerebral form affect children aged 5-10, while the adrenomyeloneuropathy (AMN) form affects middle-aged men. The latter usually causes adrenal insufficiency, more commonly seen in men. This condition usually presents vast signs and symptoms based on the type one has and gender. Diagnosis of ALD is based on clinical manifestations and laboratory investigations which include measurement of very long chain fatty Acids (VLCFAs) blood levels and abnormal Magnetic resonant image (MRI) findings of white matter, pyramidal tracts in the brain stem, and internal capsules. Stem cell transplants using hemopoietic stem cells and ex-vivo gene treatment have been used to slow disease progression without a traditional treatment regimen. This review article is partly a teaching session for medical students and other health practitioners, fostering their research skills and integrative learning.