D-Bifunctional Protein Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.

**Synonyms:** - D-Bifunctional Enzyme Deficiency - Multifunctional Enzyme Deficiency - Peroxisomal Multifunctional Enzyme (MFE2) Deficiency - Peroxisomal Multifunctional Enzyme Deficiency - Pseudo-Zellweger Syndrome