Bifunctional enzyme deficiency

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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: // Data version September 2023.

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Bifunctional enzyme deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.