A 4-Month-Old Boy Is Being Evaluated for a Hereditary Metabolic

A 4-month-old boy is being evaluated for a hereditary metabolic disorder after presenting with failure to thrive and developmental delay.  He was born outside the United States and had several seizures during the neonatal period.  Physical examination reveals an abnormal head shape with a large anterior fontanelle and widely splayed cranial sutures.  Profound hypotonia and hepatomegaly are also noted.  Biochemical studies show elevated levels of very long chain fatty acids (VLCFAs) and phytanic acid.  Cultured skin fibroblasts show impaired ability to oxidize VLCFAs.  This patient's condition is best explained by dysfunction of which of the following cellular structures?

A) Golgi apparatus
B) Lysosomes
C) Mitochondria
D) Peroxisomes
E) Proteasomes
F) Rough endoplasmic reticulum

Correct Answer:

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