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Cholesterol

Smith-Lemli-Opitz (SLO)

Children: 100 mg/kg/day in 3 divided doses (doses up to 150mg/kg/day have been used). 
Adults: 40mg/kg/day or 500 mg /day in 3 divided doses (9), (39-41)

150 mg tablets

PO

Unknown

4

9. Loche S, Carta D, Muntoni AC, Corda R, Pintor C. Oral administration of arginine enhances the growth hormone response to growth hormone releasing hormone in short children. Acta Paediatr 1993;82(10):883-4

39. Bindu PS, Noone ML, Nalini A, Muthane UB, Kovoor JM. Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. J Child Neurol 2009;24(6):750-2 doi: 24/6/750 [pii]

10.1177/0883073808329525[published Online First: Epub Date]|.

40. Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998;121 ( Pt 7):1267-79

41. Subramaniam P, Clayton PT, Portmann BC, Mieli-Vergani G, Hadzic N. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J Pediatr Gastroenterol Nutr 2010;50(1):61-6 doi: 10.1097/MPG.0b013e3181b47b34[published Online First: Epub Date]|.

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