What genetic condition affects the metabolism of very long-chain fatty acids?

Adrenoleukodystrophy (ALD) is indeed the genetic condition that affects the metabolism of very long-chain fatty acids. This condition is primarily caused by mutations in the ABCD1 gene, which is responsible for the transport of these fatty acids into peroxisomes for breakdown. When this transport is disrupted, very long-chain fatty acids accumulate in the body, leading to neurological and adrenal dysfunction.

The implications of this condition are significant, particularly since elevated very long-chain fatty acid levels can lead to severe symptoms such as progressive loss of neurological function, which typically manifests in childhood and often leads to major disability or death. Treatment options are limited, but early diagnosis can help guide management strategies.

In contrast, Hunter syndrome is a lysosomal storage disorder that primarily affects the metabolism of glycosaminoglycans, while phenylketonuria (PKU) involves the metabolism of phenylalanine, an amino acid. Galactosemia, on the other hand, affects the metabolism of galactose, a sugar found in milk and dairy products. Each of these conditions impacts different metabolic pathways and substrates, distinguishing them significantly from adrenoleukodystrophy's specific impact on very long-chain fatty acids.