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Growth hormone deficiency associated with methylmalonic acidemia
M Al-Owain1, C Freehauf, L Bernstein
1Department of Pediatrics, University of Colorado School of Medicine, Denver, CO, USA. alowain@kfshrc.edu.sa
Journal of Pediatric Endocrinology & Metabolism : JPEM
|April 2, 2004
Summary
Growth hormone (GH) deficiency may cause poor growth in organic acidemia patients. While GH therapy improved growth in one patient, methylmalonic acid levels remained high, suggesting GH deficiency is a key factor.
Area of Science:
- Biochemistry
- Endocrinology
- Genetics
Background:
- Organic acidemias are metabolic disorders often associated with poor growth.
- Growth hormone (GH) therapy is explored for anabolic enhancement and reducing methylmalonic acid levels.
Observation:
- Two patients with methylmalonic acidemia (mut(o)) presented with poor growth and GH deficiency.
- Elevated methylmalonic acid levels persisted despite conventional treatment.
Findings:
- GH deficiency was confirmed in both patients.
- GH therapy improved growth in one patient, but did not normalize methylmalonic acid levels.
- These results indicate GH deficiency may contribute to poor growth in organic acidemia.
Implications:
- Highlights the potential role of GH deficiency in the pathophysiology of poor growth in organic acidemias.
- Suggests comprehensive endocrine evaluation, including GH assessment, is crucial for managing growth failure in these patients.
- Informs therapeutic strategies, emphasizing that while GH may improve growth, it may not resolve underlying metabolic derangements.
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