Case Study On X-Linked Adrenoleukodystrophy

Madhavi Kumari M; Kirthana Boddu

M. Madhavi Kumari Assistant Professor, Department of Pharmacology,Avanthi Institute of Pharmaceutical Sciences
Boddu kirthana Doctor of Pharmacy, Avanthi Institute of Pharmaceutical Sciences, Cherukupally, Vizianagaram.

Abstract

X-Linked Adrenoleukodystrophy (X-ALD) is a rare and devastating genetic disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency. This X-linked disorder is caused by mutations in the ABCD1 gene, leading to the accumulation of very-long-chain fatty acids (VLCFAs). The patient in question is a 10-year-old male, presenting with a history of progressive neurological symptoms such as vision and hearing loss, difficulty swallowing, and motor dysfunction. Diagnosis poses challenges due to the diverse clinical presentation, requiring a multidisciplinary approach encompassing neurological assessments, imaging studies, and genetic testing. Understanding the genetic basis has facilitated genetic counseling and family screening, allowing for early identification of at-risk individuals.

Current treatment strategies focus on symptom management and disease modification. Hormone replacement therapy addresses adrenal insufficiency, while dietary interventions and experimental treatments like hematopoietic stem cell transplantation aim to reduce VLCFA levels and slow disease progression. Ongoing research explores genetic therapies and targeted interventions, offering hope for improved outcomes. Long-term management involves regular monitoring, rehabilitation services, and palliative care as symptoms evolve. The comprehensive care of individuals with X-ALD requires collaboration between healthcare providers, researchers, and patient advocacy groups.

Keywords: X-ALD, Adrenoleukodystrophy, Very-Long-Chain Fatty Acids, rehabilitation services, motor dysfunction, Peroxisome, progressive demyelination

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