JOURNAL ARTICLE

Common Organic Acidemias in a Tertiary Hospital in Egypt.

  • Published In: QJM: An International Journal of Medicine, 2024, v. 117. P. ii136 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Mohamed, Amany Hosny; Abdel Fattah, Nada Hammad; Khalifa, Ola Ali 3 of 3

Abstract

The article focuses on the clinical characteristics and outcomes of common organic acidemias (OAs) among pediatric patients at a tertiary hospital in Egypt. Organic acidemias are inherited metabolic disorders marked by the accumulation of organic acids, with glutaric acidemia type 1 (GA-1) and methylmalonic acidemia (MMA) being the most prevalent in this population, partly due to high consanguinity rates. The study reviewed 76 cases, finding developmental delay, poor feeding, and vomiting as common symptoms, and noted that over half of the patients experienced a regressive disease course, though most were alive and well at follow-up. The findings highlight the need for increased awareness among healthcare providers and support the implementation of newborn screening programs for early diagnosis and management of these disorders in Egypt.

Additional Information

  • Source:QJM: An International Journal of Medicine. 2024/10, Vol. 117, pii136
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2024
  • ISSN:1460-2725
  • DOI:10.1093/qjmed/hcae175.316
  • Accession Number:181635935
  • Copyright Statement:Copyright of QJM: An International Journal of Medicine is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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