
X-linked adrenoleukodystrophy | Newborn Screening
X-linked adrenoleukodystrophy (X-ALD) is an inherited (genetic) condition that prevents the body from breaking down certain fats that are important in certain parts of the body like the brain, spinal cord, as well as the adrenal glands, which help produce certain hormones in the body.
X-linked adrenoleukodystrophy - MedlinePlus
Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. There are four distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, an adrenal insufficiency only form, and a type called asymptomatic.
Adrenoleukodystrophy - Symptoms and causes - Mayo Clinic
2020年2月7日 · In adrenoleukodystrophy (ALD), your body can't break down very long-chain fatty acids (VLCFAs), causing saturated VLCFA s to build up in your brain, nervous system and adrenal gland. The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome.
X-Linked Adrenoleukodystrophy - GeneReviews® - NCBI Bookshelf
1999年3月26日 · X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency.
ALD: Adrenoleukodystrophy, Disease, X-Linked - Cleveland Clinic
2021年5月17日 · Adrenoleukodystrophy, ALD, is a genetic disorder connected to the X chromosome. It affects the nervous system and adrenal glands. Symptoms of ALD often include behavioral and cognitive changes. ALD affects males more than females. Treatment focuses on stopping or slowing the disease’s progression and improving symptoms. What is ALD?
X-Linked Adrenoleukodystrophy - Symptoms, Causes, Treatment
2022年9月30日 · X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the white matter of the nervous system and the adrenal cortex. White matter is made up of nerve fibers called axons that relay nerve impulses from one cell to another. These nerve fibers are covered by myelin, an insulating layer or sheath that protects the nerve fibers.
X-linked adrenoleukodystrophy | Radiology Reference Article ...
2025年1月21日 · X-linked adrenoleukodystrophy is an inherited metabolic peroxisomal disorder and one of the more common leukodystrophies in both children and adults.
X-linked adrenoleukodystrophy (X-ALD): clinical presentation …
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22).
X-Linked Adrenoleukodystrophy: Symptoms, Causes, and Treatment - Healthline
2024年6月12日 · Read on to learn more about X-ALD, including its symptoms, treatment options, and outlook. How common is X-ALD? X-ALD is estimated to affect between 1 in 10,000 to 1 in 17,000 people. It may be...
Adrenal Insufficiency Due to X-Linked Adrenoleukodystrophy
2024年6月23日 · X-linked adrenoleukodystrophy (X-ALD) is a rare inherited neurodegenerative disorder, involving mainly the white matter and axons of the central nervous system and the adrenal cortex and is a frequent but under-recognized cause of primary adrenocortical insufficiency. X-ALD is caused by a defect in the gene ABCD1 that maps to Xq 28 locus.