ABCD1
- Known as:
- ABCD1
- Catalog number:
- 000921A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCD1
Related genes to: ABCD1
- Gene:
- ABCD1 NIH gene
- Name:
- ATP binding cassette subfamily D member 1
- Previous symbol:
- ALD
- Synonyms:
- AMN, ALDP, adrenoleukodystrophy
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ABCD1
Related articles to: ABCD1
- X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is associated with serious clinical consequences. While newborn screening (NBS) could facilitate early identification and timely intervention, its implementation for X-ALD remains controversial due to ethical concerns arising from its X-linked recessive inheritance pattern, particularly regarding female newborns. This study aims to explore the perspectives of healthcare professionals and the general public on NBS for X-ALD in Hong Kong. An online survey with 20 quantitative questions on ethical considerations was conducted from May to August 2024. Among a total of 259 responses, most respondents (99.2%) supported NBS for their male newborns, primarily because it facilitates early diagnosis and effective management. The majority of the respondents were in favor of offering NBS to female newborns, citing potential benefits for the management of adult-onset disease, enhanced family planning and support, and opportunities for extended family screening. However, some respondents expressed concerns regarding (1) psychological stress and anxiety from uncertain disease onset and frequent monitoring; (2) potential genetic discrimination and adverse impact on insurance premiums/coverage; (3) affordability and accessibility of expensive treatments, such as gene therapy; and (4) ethical issues regarding children's "right to an open future", particularly for late-onset female X-ALD. To address these concerns while respecting family autonomy, we propose an opt-in system with clear, balanced information for parents, combined with a three-tier screening algorithm. In summary, while inclusion of X-ALD in Hong Kong's NBS program receives strong community support, targeted measures are needed to mitigate the identified ethical and practical barriers. - Source: PubMed
Publication date: 2026/07/31
Mak Chloe MiuWu Hoi YingWong Ariel YingSong Felicite EnyuChan Toby Chun HeiFung Cheuk WingWong Suet NaHau Edgar Wai LokYeung Matthew Chun Wing - X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired peroxisomal β-oxidation of very-long-chain fatty acids (VLCFAs). Adrenomyeloneuropathy (AMN) is a frequent adult phenotype characterized by progressive spastic paraparesis and axonal neuropathy. We report the first case of AMN associated with a novel ABCD1 variant. - Source: PubMed
Publication date: 2026/08/15
Barone ValentinaBorghi AnnamariaVaisfeld AlessandroCorona GiovanniGalatolo DanieleTessa AlessandraSantorelli FilippoStagni SilviaSimonetti LuigiZini Andrea - X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, encoding a peroxisomal membrane transporter required for the import of very-long-chain fatty acids (VLCFA) into peroxisomes for degradation. ABCD1 deficiency leads to VLCFA accumulation in plasma and tissues. The resulting disease has a highly variable clinical presentation. In males, this manifests as cerebral demyelination, progressive myelopathy, and adrenal insufficiency, alone or in combination. Women predominantly develop myelopathy, while cerebral disease and adrenal insufficiency are rare, occurring almost exclusively in cases of extreme X-inactivation skewing toward the mutant allele. The lipid-mediated mechanisms linking VLCFA accumulation to tissue-specific pathology remain incompletely understood. Here, we review evidence that VLCFA-containing complex lipids, rather than free VLCFAs alone, are central mediators of tissue-specific pathology in ALD and discuss the therapeutic implications of this lipid-centric perspective. VLCFAs are incorporated into a broad range of complex lipids, including phosphatidylcholines, lysophosphatidylcholines, cholesterol esters, triacylglycerols, sphingomyelins, ceramides, and plasmalogens. The degree of lipid dysregulation increases with acyl chain length and saturation. VLCFA-containing lipid species correlate with disease severity across all clinical phenotypes. In the brain, VLCFA-containing phosphatidylcholines accumulate before demyelination onset, cholesterol ester accumulation is associated with neuroinflammatory cascades, and plasmalogen depletion reflects early oxidative damage. In the spinal cord, VLCFA-containing myelin lipids are associated with non-inflammatory axonopathy, mitochondrial dysfunction, and microglial phagocytic activation. In the adrenal gland, VLCFA accumulation in cholesterol ester-rich lipid droplets impairs ACTH receptor signaling and sequesters cholesterol from steroidogenic pathways. Enzymatic regulators of VLCFA homeostasis, including ELOVL1, SCD1, and the omega-oxidation enzymes CYP4F2 and CYP4F3B, are potential therapeutic targets for substrate reduction. Plasma VLCFA-lipid profiles correlate with disease severity across all affected tissues, positioning lipidomic profiling as a potential clinical instrument for risk stratification and treatment monitoring. Secondary lipid mediators amplify primary VLCFA toxicity through distinct, cell-type-specific pathways. The near-exclusive occurrence of cerebral ALD and adrenal insufficiency in women with extreme X-inactivation skewing suggests that partial reduction of the VLCFA lipid burden, rather than complete normalization, may be sufficient to prevent severe disease manifestations. This has direct implications for substrate-reduction therapy development. - Source: PubMed
Publication date: 2026/07/17
Kemp StephanEngelen MarcJaspers Yorrick R J - To determine whether boys with VUS detected through Newborn screening (NBS) for Adrenoleukodystrophy (ALD) develop adrenal insufficiency (aiALD) and cerebral ALD (cALD) at rates comparable to those with pathogenic variants, and to evaluate the relationship between C26:0-lysophosphatidylcholine (C26:0-LPC) levels and clinical outcomes. - Source: PubMed
Publication date: 2026/07/02
Videbaek Cecilie SKim Danielle HjHart Hannah SThompson RobertAziz-Bose RazinaPurnell-Savoy LachelleBharill SonumHashemi EzzatOrsini JosephSeeger ElisaMcAuliffe MirandaSrivastava IshaMacLean Jennifer AShah SejalFatemi AliCohen Julie SMallack EricLund TroyEichler FlorianBonkowsky Joshua LAdang LauraHe ZihuaiLund Allan Mvan Haren Keith P - The co-occurrence of hemophilia A and X-linked adrenoleukodystrophy (ALD) represents an exceptionally rare clinical scenario. Both the F8 and ABCD1 genes are situated at the Xq28 locus, a gene-dense region where independent pathogenic variants may co-segregate due to low recombination rates and the presence of mutational hotspots. We report a rare co-occurrence of distinct pathogenic variants in both genes in the same patient. - Source: PubMed
Publication date: 2026/06/22
Terrone GaetanoFecarotta SimonaLorello PaolaImproda NicolaAlagia MariannaPaolella ChiaraSalerno MariacarolinaCapalbo Donatella