Premium
Prenatal diagnosis of medium‐chain acyl‐coenzyme A dehydrogenase deficiency
Author(s) -
Bennett M. J.,
Allison F.,
Lowther G. W.,
Gray R. G. F.,
Johnston D. I.,
Fitzsimmons J. S.,
Manning N. J.,
Pollitt R. J.
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070210
Subject(s) - fetus , prenatal diagnosis , amniotic fluid , pregnancy , acyl coa dehydrogenase , endocrinology , medicine , dehydrogenase , chemistry , enzyme , biochemistry , biology , genetics
A fatal case of medium‐chain acyl‐coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non‐ketotic dicarboxylic aciduria. Cultured skin fibroblasts released 14 CO 2 from [1– 14 C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.