Adrenoleukodystrophy

Adrenoleukodystrophy is an inherited disorder in which very-long-chain fatty acids accumulate, damaging the adrenal glands and the myelin that insulates nerve cells.

ABCD1: ABCD1 is a gene encoding a peroxisomal membrane protein that transports very-long-chain fatty-acid substrates for breakdown. Most cases result from pathogenic variants in this gene, disrupting peroxisomal fatty-acid transport.
Newborn screening: Newborn screening tests infants for selected conditions so that diagnosis and care can begin early. Screening can identify affected boys before symptoms appear, allowing surveillance and timely evaluation.
Childhood cerebral adrenoleukodystrophy: Childhood cerebral adrenoleukodystrophy is a rapidly progressive inflammatory brain disease, usually beginning in childhood. It is the form in which early recognition and intervention are especially time-sensitive.
Zellweger spectrum disorder: Zellweger spectrum disorder is a group of inherited conditions caused by defects in peroxisome formation or function. It also disrupts peroxisomal metabolism, but arises from different genes and usually broader dysfunction.
Peroxisome: A peroxisome is a cell organelle that carries out reactions including the breakdown of very-long-chain fatty acids. Impaired peroxisomal processing explains why these fatty acids accumulate in adrenoleukodystrophy.
Adrenoleukodystrophy diagnosis: Adrenoleukodystrophy diagnosis combines biochemical testing, genetic analysis, and clinical or imaging findings. Elevated plasma very-long-chain fatty acids and an ABCD1 variant help confirm the disorder.
Adrenomyeloneuropathy: Adrenomyeloneuropathy is a later-onset form marked chiefly by progressive spinal cord and peripheral nerve dysfunction. This presentation can develop in adulthood even when childhood cerebral disease never occurs.
Refsum disease: Refsum disease is an inherited disorder in which phytanic acid accumulates because its breakdown is impaired. It is another peroxisomal metabolic disorder, but involves a different fatty acid and clinical pattern.
Very-long-chain fatty acid: Very-long-chain fatty acids are fatty acids with 22 or more carbon atoms. Their accumulation in tissues is the biochemical hallmark of this disorder.
Brain magnetic resonance imaging: Brain magnetic resonance imaging uses magnetic fields and radio waves to produce detailed images of brain tissue. MRI detects characteristic white-matter lesions and helps monitor cerebral disease progression.

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