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A Strategy for Sensitive, Large Scale Quantitative Metabolomics
14:18

A Strategy for Sensitive, Large Scale Quantitative Metabolomics

Published on: May 27, 2014

Organic acidemias: a methylmalonic and propionic focus

Lori Van Gosen1

  • 1Johns Hopkins School of Nursing, Johns Hopkins Children Center, Pediatric Clinical Research Unit, Baltimore, MD 21154, USA. patchsok@yahoo.com

Journal of Pediatric Nursing
|May 22, 2008
PubMed

Insights

Nursing literature on managing children with organic acidemias (OAs) is scarce. This review highlights methylmalonic and propionic acidemias, emphasizing the need for improved nursing knowledge in metabolic genetics and lifelong patient care.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Nursing

Background:

  • Organic acidemias (OAs) are rare genetic metabolic disorders.
  • Management guidelines for pediatric OAs are not well-established in nursing literature.
  • Methylmalonic acidemia and propionic acidemia are common types of OAs.

Purpose of the Study:

  • To review current knowledge on the management of methylmalonic acidemia and propionic acidemia in children.
  • To identify gaps in nursing literature regarding OA care.
  • To emphasize the need for enhanced nursing expertise in metabolic genetics and patient management.

Main Methods:

  • Literature search conducted on PubMed, CINAHL, OVID, UpToDate, and GeneReview.
  • Focused on articles related to methylmalonic acidemia and propionic acidemia management.
  • Synthesized findings on diagnosis, treatment, and long-term care.

Main Results:

  • Early diagnosis and treatment benefits are documented.
  • Significant unresolved aspects of OA care management persist.
  • Lifelong follow-up for complications is essential for OA patients.

Conclusions:

  • Nurses require increased familiarity with metabolic genetics for effective OA patient care.
  • A better understanding of medical and nursing management is crucial.
  • Ongoing research is needed to determine optimal long-term treatment and care strategies.

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