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END-Bifunctional Protein Deficiency (DBPD)
Alias:
Bifunctional Peroxisomal Enzyme Deficiency
Peroxisomal Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Pbfe Deficiency
Dbp Deficiency
Protein Deficiency, D-Bifunctional
Zellweger-Like Syndrome
Dbpd
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D-Bifunctional Protein Deficiency, also known as bifunctional peroxisomal enzyme deficiency, is related to bifunctional enzyme deficiency and alpha-methylacetoacetic aciduria. An important gene associated with D-Bifunctional Protein Deficiency is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include liver and kidney, and related phenotypes are hypotonia and global developmental delay
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MALACARDS
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