Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre‐ and postnatal diagnosis

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

“…However, a lower ®gure has been reported in North American patients [6]. In any case, this allows the development a simple DNA-based assay which can provide the basis for a prenatal diagnosis in a majority of at-risk pregnancies [13,28].…”

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

“…Prenatal diagnosis is possible either by mutation analysis or by determination of the enzyme activities in chorionic villi. 13,14 Patients with LCHAD deficiency are often characterized by the following clinical features: cardiomyopathy, hepatopathy, hypoketotic hyp0glycemia, retinopathy, hypotonia, and peripheral neuropathy. 8' 9, 1»-27 However, two patients with the combined defect of the trifunctional protein had a surprisingly mild clinical course.…”

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

“…The assay can also be performed in leucocytes and cultured chorionic villus cells [30] thus providing the possibility of prenatal diagnosis. Recently molecular analysis has revealed a single mutation located in the dehydrogenase coding part of the mitochondrial trifunctional protein enabling prenatal diagnosis to be performed at the molecular level [14].…”