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A 5-year-old boy begins to regress in terms of developmental milestones, particularly neurologically. Shortly thereafter, the child enters a coma, and dies 2 years into the coma. Upon autopsy, the myelin sheath in the brain was found to be abnormal, as it contained a large quantity of very long-chain fatty acids in its phospholipids. The adrenal glands were also abnormal in appearance. The child, at the molecular level, had inherited a mutation that led to an inability to catalyze reactions that occur in which one of the following intracellular organelles?

Question

A 5-year-old boy begins to regress in terms of developmental milestones, particularly neurologically. Shortly thereafter, the child enters a coma, and dies 2 years into the coma. Upon autopsy, the myelin sheath in the brain was found to be abnormal, as it contained a large quantity of very long-chain fatty acids in its phospholipids. The adrenal glands were also abnormal in appearance. The child, at the molecular level, had inherited a mutation that led to an inability to catalyze reactions that occur in which one of the following intracellular organelles?

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Solution

The child's symptoms and autopsy findings suggest a diagnosis of Adrenoleukodystrophy (ALD), a rare, inherited metabolic disorder. In ALD, the body is unable to break down very long-chain fatty acids (VLCFAs), leading to their accumulation in the brain and adrenal cortex, which causes the neurological symptoms and adrenal insufficiency seen in this child.

The mutation in ALD affects the ABCD1 gene, which codes for a protein that transports VLCFAs into peroxisomes, small organelles in the cell where VLCFAs are broken down. Therefore, the inability to catalyze reactions that break down VLCFAs occurs in the peroxisomes.

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