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Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia
Author(s) -
Ibdah J. A.,
Dasouki M. J.,
Strauss A. W.
Publication year - 1999
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 - 10.1023/a:1005506024055
Subject(s) - medicine , pregnancy , hypocalcaemia , acute fatty liver of pregnancy , hellp syndrome , pediatrics , preeclampsia , gestation , endocrinology , obstetrics , biology , calcium , genetics
Patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency present with a Reye‐like syndrome, cardiomyopathy, or sudden unexpected death. We describe an unusual presentation in a patient with unsuspected LCHAD deficiency. The proband presented at 2 months of age with an acute infantile hypocalcaemia and vitamin D deficiency associated with occult, unexplained cholestatic liver disease. Sudden, unexpected death occurred at 8 months. Molecular analysis revealed homozygosity for the prevalent LCHAD (1528G>C, E474Q) mutation. The mother had pre‐eclampsia during the third trimester of her pregnancy. In a subsequent pregnancy, she developed severe acute fatty liver of pregnancy (AFLP) and intrauterine fetal death at 33 weeks of gestation. In conclusion, infantile hypocalcaemia is an unusual phenotype associated with LCHAD deficiency. The maternal pregnancy history documents that fetal LCHAD deficiency is associated with a spectrum of maternal illnesses ranging from pre‐eclampsia to life‐threatening AFLP.