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What is Wrong about X-linked adrenoleukodystrophy: and explain in detail?
Ans. A. Is a mitochondrial disorderX-linked adrenoleukodystrophy is a peroxisomal disorder of very long chain fatty acid (VLCFA) oxidation. It result in progressive adrenal cortex and neuronal white matter degeneration, and the phenotype is variable. It may present with Addison's disease, or it may present with neurological features (behaviour disturbance, developmental regression, ataxia, seizures, and spasticity). Diagnostic investigations include VLCFAs, adrenal cortical function tests, MRI brain scan and neuropsychiatric assessment. Management is supportive with adrenal steroid replacement, anticonvulsants, NG or gastrostomy feeding. Supplementation with monounsaturated amino acids (Lorenzo's oil) may be beneficial but is not curative.