D-bifunctional protein deficiency

A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chro

A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Hypotonia
• Increased circulating very long-chain fatty acid concentration
• Global developmental delay
• Very long chain fatty acid accumulation
• Calcific stippling
• Elevated circulating hepatic transaminase concentration
• Neonatal hypotonia
• Seizure
• Scaphocephaly