Bifunctional enzyme deficiency
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme and types 2 and 3 by hydratase or dehydrogenase deficiency alone while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia seizures severe global developmental delay craniofacial dysmorphism (large fontanel high forehead hypertelorism epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly polymicrogyria and cerebral white matter abnormalities among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Bifunctional enzyme deficiency?
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Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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