What congenital condition leads to an absence of peroxisomes and is characterized by increased very-long-chain fatty acids?

Zellweger syndrome is a congenital condition caused by a defect in the peroxisome biogenesis. This disorder is characterized by the complete absence of functional peroxisomes, which are important for various metabolic processes, including the breakdown of very-long-chain fatty acids. In the absence of these organelles, the body cannot properly metabolize these fatty acids, resulting in their accumulation in tissues and blood.

The symptoms of Zellweger syndrome typically manifest at birth and include significant neurological impairment, developmental delays, dysmorphic facial features, and hepatic dysfunction. The accumulation of very-long-chain fatty acids in the plasma and tissues is a hallmark of the condition and helps in its diagnosis.

In contrast, the other conditions listed are unrelated to peroxisome function and do not involve the specific accumulation of very-long-chain fatty acids. Chédiak-Higashi syndrome is associated with immunodeficiency and neurological issues, familial dysautonomia involves autonomic nervous system dysfunction, and Niemann-Pick disease typically presents with sphingomyelin accumulation due to a defect in lipid metabolism, not specifically related to peroxisomes or very-long-chain fatty acids.