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Prenatal diagnosis of 3‐Hydroxy‐3‐methylglutaric aciduria by GC‐MS and enzymology on cultured amniocytes and chorionic villi
Author(s) -
Chalmers R. A.,
Tracey B. M.,
Mistry J.,
Stacey T. E.,
McFadyen I. R.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799219
Subject(s) - chorionic villi , prenatal diagnosis , amniotic fluid , chorionic villus sampling , fetus , gestation , pregnancy , endocrinology , medicine , andrology , chemistry , biology , genetics
Summary This paper reports the prenatal diagnosis of HMG CoA lyase deficiency at 16 weeks' gestation by direct chemical analysis of cell‐free amniotic fluid and by measurement of HMG CoA lyase activity in cultured amniocytes. Termination of an affected fetus allowed study of chorionic villus tissue, the results providing the basis for future first trimester prenatal diagnoses of this condition. An abstract report of this work has appeared elsewhere (Chalmers et al. , 1985).