2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Epidemiology of X-linked Adrenoleukodystrophy Beyond the Western World: a Systematic Review of the Literature

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X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder that affects the nervous system and adrenal glands. It is characterized by the accumulation of very long chain fatty acids. Symptoms typically appear after the age of two and include abnormal adrenal gland function, aggressive behavior, motor deficits, intellectual disability, and sensory dysfunction.<br /><br />A study was conducted using PubMed to search for articles on X-ALD in the 30 most populous countries outside of the US and Europe. The articles were selected based on certain criteria, such as being cohort studies and reporting demographic information. Patient information, including demographics and prevalence rates, was extracted from the selected articles. <br /><br />The study found that the prevalence of X-ALD did not correlate with a country's population. Japan had the highest number of X-ALD patients, followed by China and Brazil. Despite having larger populations, China and India reported fewer patients. Japan's ability to report on a larger number of patients was attributed to a nationwide database.<br /><br />The prevalence rates of X-ALD found in the US were significantly higher than those reported in the reviewed articles. Population-based screening in the US was able to detect subtler phenotypes of the disease. No systematic review of X-ALD data outside of the US and Europe has been conducted.<br /><br />The study highlights the need for increased detection and diagnosis of X-ALD in countries outside of the Western world. Implementing newborn screening and nationwide databases can help improve understanding of the epidemiology of rare neurological diseases like X-ALD. Future research should consider funding for healthcare per capita to understand the distribution of resources for rare neurological diseases.<br /><br />This study provides valuable insights into the geographic distribution and prevalence of X-ALD outside of the US and Europe. It emphasizes the importance of early detection and diagnosis to improve outcomes for patients with X-ALD.

Asset Subtitle

Presenting Author - Abhaya Sundar, High School Student; Co-Author - Amanda M. Nagy, MD; Co-Author - Catherine Becker, NP; Co-Author - Florian Eichler, MD;

Meta Tag

Brain/Nervous System

Genetic Testing

Neuroscience

Population Genetics

X-Inactivation/X-Linked Disease

Co-Author Amanda M. Nagy, MD

Co-Author Catherine Becker, NP

Co-Author Florian Eichler, MD

Presenting Author Abhaya Sundar, High School Student

Keywords

X-linked Adrenoleukodystrophy

genetic disorder

nervous system

adrenal glands

symptoms

prevalence rates

Japan

China

Brazil

early detection