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

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 10 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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Topaloglu AK,Sansaricq C,Snyderman SE

doi

10.1203/00006450-200106000-00014

subject

Has Abstract

pub_date

2001-06-01 00:00:00

pages

796-8

issue

6

eissn

0031-3998

issn

1530-0447

journal_volume

49

pub_type

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