JOURNAL ARTICLE

Bone Health Assessment in Patients with Methylmalonic Acidemia.

  • 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: Emam, Mohmed; El Sedafy, Heba; Omar, Omar Hussain; Hammad, Nada; Elnabi, Marawa Hasab; Elsayed, Solaf M. 3 of 3

Abstract

The article focuses on the clinical and biochemical characterization of common organic acidemias (OAs) among pediatric patients in Egypt, with an emphasis on methylmalonic acidemia (MMA) and its impact on bone health. A retrospective study of 76 pediatric patients revealed that glutaric acidemia type 1 (GA-1) and MMA were the most frequent OAs, with high consanguinity rates noted. A separate investigation of 24 MMA patients showed decreased bone mineral density (BMD) linked to copper deficiency, poor treatment compliance, and chronic acidosis, contributing to impaired bone formation and increased resorption. These findings highlight the importance of early diagnosis and management of OAs to mitigate complications such as bone health deterioration.

Additional Information

  • Source:QJM: An International Journal of Medicine. 2024/10, Vol. 117, pii136
  • Document Type:Article
  • Subject Area:Nutrition and Dietetics
  • Publication Date:2024
  • ISSN:1460-2725
  • DOI:10.1093/qjmed/hcae175.317
  • Accession Number:181635936
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