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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Bifunctional enzyme deficiency?
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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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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