Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency


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Topaloglu A., Sansaricq C., Snyderman S.

PEDIATRIC RESEARCH, vol.49, no.6, pp.796-798, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 6
  • Publication Date: 2001
  • Doi Number: 10.1203/00006450-200106000-00014
  • Journal Name: PEDIATRIC RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.796-798
  • Çukurova University Affiliated: No

Abstract

The etiology of the tall stature almost invariably seen in homocystinuric patients is not known. The effect of metabolic control and the role of the GH-IGF system on growth were investigated in IO patients with homocystinuria. There was a direct correlation between the plasma free homocyst(e)ine and growth velocity SD scores in 18 patient years (r, 0.46; p < 0.05). Plasma 2-y cumulative free homocyst(e)ine and height SD scores were directly correlated (r, 0.82; p < 0.01). Growth velocity SD scores were Lower in patients with optimal metabolic control than in those with poorer control (-0.10 +/- 0.65 versus 0.95 +/- 0.68, p < 0.01). Height SD scores were also lower in the optimally controlled group (-0.01 +/- 0.81 versus 1.73 +/- 0.88, p < 0.05). GH and GH-related peptides did not deviate significantly from the reference ranges. These findings suggest that overgrowth is directly mediated by homocysteine, that the GH-IGF axis is not involved, and that it may be prevented by optimal metabolic control.