TY - JOUR
T1 - Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
AU - Elias, Ellen R.
AU - Irons, Mira B.
AU - Hurley, Anne D.
AU - Tint, G. Stephen
AU - Salen, Gerald
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1997
Y1 - 1997
N2 - We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-'Smith-Lemli-Opitz' syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy were seen in all patients, irrespective of age at onset of treatment, or severity of cholesterol defect. Effects of treatment included improved growth, more rapid developmental progress, and a lessening of problem behaviors. Pubertal progression in older patients, a better tolerance of infection, improvement of gastrointestinal symptoms, and a diminution in photosensitivity and skin rashes were also noted. There were no adverse reactions to treatment with cholesterol. This preliminary study suggests that cholesterol supplementation may be of benefit to patients with the SLOS.
AB - We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-'Smith-Lemli-Opitz' syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy were seen in all patients, irrespective of age at onset of treatment, or severity of cholesterol defect. Effects of treatment included improved growth, more rapid developmental progress, and a lessening of problem behaviors. Pubertal progression in older patients, a better tolerance of infection, improvement of gastrointestinal symptoms, and a diminution in photosensitivity and skin rashes were also noted. There were no adverse reactions to treatment with cholesterol. This preliminary study suggests that cholesterol supplementation may be of benefit to patients with the SLOS.
KW - 7-dehydrocholesterol (7-DHC)
KW - cholesterol therapy
KW - Smith-Lemli-Opitz syndrome (SLOS)
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U2 - 10.1002/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X
DO - 10.1002/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X
M3 - Article
C2 - 9024564
AN - SCOPUS:0031050244
VL - 68
SP - 305
EP - 310
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -