Desmosterolosis: a new inborn error of cholesterol biosynthesis
P Clayton, K Mills, J Keeling, D FitzPatrick - The Lancet, 1996 - thelancet.com
P Clayton, K Mills, J Keeling, D FitzPatrick
The Lancet, 1996•thelancet.comshowed that the blood and tissues of infants with Smith-Lemli-Opitz (SLO) syndrome
contained reduced amounts of cholesterol and greatly increased concentrations of a
cholesterol precursor, 7-dehydrocholesterol. This discovery showed that an inborn error of
metabolism affecting a step in the synthesis of cholesterol from lanosterol could give rise to a
characteristic pattern of malformation. The discovery of the biochemical defect has also led
to successful prenatal diagnosis.
contained reduced amounts of cholesterol and greatly increased concentrations of a
cholesterol precursor, 7-dehydrocholesterol. This discovery showed that an inborn error of
metabolism affecting a step in the synthesis of cholesterol from lanosterol could give rise to a
characteristic pattern of malformation. The discovery of the biochemical defect has also led
to successful prenatal diagnosis.
showed that the blood and tissues of infants with Smith-Lemli-Opitz (SLO) syndrome contained reduced amounts of cholesterol and greatly increased concentrations of a cholesterol precursor, 7-dehydrocholesterol. This discovery showed that an inborn error of metabolism affecting a step in the synthesis of cholesterol from lanosterol could give rise to a characteristic pattern of malformation. The discovery of the biochemical defect has also led to successful prenatal diagnosis.
thelancet.com