The Prenatal Diagnosis of 3-hydroxy-3-methylglutaric Aciduria by Gc-ms and Enzymology on Cultured Amniocytes and on Chorionic Villi

Abstract

3-Hydroxy-3-methylglutaric (HMG) aciduria is a disorder of L-leucine metabolism and ketone body biosynthesis characterised by recurrent acute life-threatening episodes resembling Reye's syndrome. Prenatal diagnosis was requested by the parents of a child with this condition and was carried out by amniocentesis at 16 weeks’ gestation. Amniotic fluid… (More)
DOI: 10.1203/00006450-198510000-00041

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