Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation

We report five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus. Diagnoses were based on increased levels of long‐chain hydroxyacylcarnitines and deficiencies of 3‐hydroxyacyl‐CoA dehydrog...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2000-12, Vol.23 (8), p.826-834
Main Authors: Chakrapani, A., Olpin, S., Cleary, M., Walter, J. H., Wraith, J. E., Besley, G. T. N.
Format: Article
Language:English
Subjects:
3-Hydroxyacyl CoA Dehydrogenases - genetics
Biological and medical sciences
Diseases of mother, fetus and pregnancy
Fatal Outcome
Fatty Liver - enzymology
Fatty Liver - genetics
Female
Fetal Diseases - enzymology
Fetal Diseases - genetics
Gynecology. Andrology. Obstetrics
Humans
Infant, Newborn
Male
Medical sciences
Mitochondrial Trifunctional Protein
Multienzyme Complexes - deficiency
Multienzyme Complexes - genetics
Point Mutation
Pregnancy
Pregnancy Complications - enzymology
Pregnancy. Fetus. Placenta
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Summary:We report five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus. Diagnoses were based on increased levels of long‐chain hydroxyacylcarnitines and deficiencies of 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) and 3‐ketoacyl‐CoA thiolase activity in fibroblasts. All affected infants lacked the common E474Q mutation associated with isolated LCHAD deficiency. This mutation is thought to be a predisposing factor for maternal hepatic disease in pregnancy. Our findings suggest that other defects in this enzyme complex might be responsible for maternal hepatic complications in pregnancy.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1026712719416