[Amino acids in plasma of patients with cerebral gigantism (Sotos syndrome) (author's transl)].
Bejar et al. described increased concentrations of valine, leucine and isoleucine in the plasma of 2 patients with cerebral gigantism (Sotos-syndrome). We have recently investigated a group of 14 children with Sotos-syndrome. The data of the plasma amino-acid determinations were compared with those of aged-matched healthy controls, 9 children with benign muscular hypotonia, 10 children with Down's syndrome and finally with those of 13 children with familial tall stature. The mean concentration of serine, glutamic acid, valine, isoleucine, leucine and phenylalanine was lower in the patients with Sotos-syndrome when compared to the healthy control group. However, all patients with benign muscular hypotonia and Down's syndrome showed increased concentrations of proline, glycine, alanine, ornithine and lysine in the plasma whereas the mean values of the children with familial tall stature differed only slightly from those of the controls. The levels of the plasma-aminoacids in patients with Sotos-syndrome were only slightly different from those in patients with muscular hypotonia, but generally lower than in tall children. We conclude that the determination of plasma-aminoacids is of no value in the diagnosis of Sotos-syndrome.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000097:blood*; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000097:blood; D006257:Head / Q000002:abnormalities; D006801:Humans; D009123:Muscle Hypotonia / Q000097:blood; D013577:Syndrome
D000596:Amino Acids
Zur Frage von Aminosäurenveränderungen im Plasma beim zerbralen Gigantismus (Sotos-Syndrom).