Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency.
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.
Topaloglu
A K
AK
Department of Human Genetics, Mount Sinai Medical Center, New York, New York 10029, USA.
Sansaricq
C
C
Snyderman
S E
SE
D000293:Adolescent; D001827:Body Height; D002648:Child; D005260:Female; D006128:Growth; D006133:Growth Substances / Q000378:metabolism; D006710:Homocysteine / Q000031:analogs & derivatives* / Q000378:metabolism; D006711:Homocystine / Q000097:blood; D006712:Homocystinuria / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D008297:Male; D012189:Retrospective Studies
D006133:Growth Substances; D006710:Homocysteine; C007956:homocysteic acid; D006711:Homocystine