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X-linked cerebral adrenoleukodystrophy

MedGen UID:
1708324
•Concept ID:
C2026514
•
Disease or Syndrome
Synonyms: Addison disease and cerebral sclerosis; adrenoleukodystrophy; adrenoleukodystrophy childhood cerebral form; adrenoleukodystrophy X-linked cerebral form; adrenomyeloneuropathy; ALD; ALD childhood cerebral form; bronze Schilder disease; childhood cerebral ALD; childhood-onset cerebral X-linked adrenoleukodystrophy; melanodermic leukodystrophy; Siemerling-Creutzfeldt disease; X-CALD
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010247
Orphanet: ORPHA139396

Definition

A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain.
Poisson LM, Kaur N, Felicella MM, Singh J
Hum Mol Genet 2023 Nov 17;32(23):3249-3262. doi: 10.1093/hmg/ddad144. PMID: 37656183Free PMC Article
Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant.
Beckmann NB, Miller WP, Dietrich MS, Orchard PJ
Child Neuropsychol 2018 Oct;24(7):986-998. Epub 2017 Sep 21 doi: 10.1080/09297049.2017.1380176. PMID: 28934891
Intrathecal IgA synthesis in X-linked cerebral adrenoleukodystrophy.
Korenke GC, Reiber H, Hunneman DH, Hanefeld F
J Child Neurol 1997 Aug;12(5):314-20. doi: 10.1177/088307389701200505. PMID: 9378899

Diagnosis

X-linked cerebral adrenoleukodystrophy.
Weldrick CL, Boers P, Kiely P, O'Halloran L
BMJ Case Rep 2023 Oct 31;16(10) doi: 10.1136/bcr-2020-237905. PMID: 37907311Free PMC Article
Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant.
Beckmann NB, Miller WP, Dietrich MS, Orchard PJ
Child Neuropsychol 2018 Oct;24(7):986-998. Epub 2017 Sep 21 doi: 10.1080/09297049.2017.1380176. PMID: 28934891
Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
Warren DJ, Connolly DJ, Wilkinson ID, Sharrard MJ, Griffiths PD
Dev Med Child Neurol 2007 Feb;49(2):135-9. doi: 10.1111/j.1469-8749.2007.00135.x. PMID: 17254002
Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
Rubio-Gozalbo ME, van Waardenburg DA, Forget PP, Spaapen LJ, Verrips A, Vroomen PC
J Inherit Metab Dis 2001 Oct;24(5):605-6. doi: 10.1023/a:1012480130445. PMID: 11757591
Intrathecal IgA synthesis in X-linked cerebral adrenoleukodystrophy.
Korenke GC, Reiber H, Hunneman DH, Hanefeld F
J Child Neurol 1997 Aug;12(5):314-20. doi: 10.1177/088307389701200505. PMID: 9378899

Therapy

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
Rubio-Gozalbo ME, van Waardenburg DA, Forget PP, Spaapen LJ, Verrips A, Vroomen PC
J Inherit Metab Dis 2001 Oct;24(5):605-6. doi: 10.1023/a:1012480130445. PMID: 11757591

Prognosis

System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain.
Poisson LM, Kaur N, Felicella MM, Singh J
Hum Mol Genet 2023 Nov 17;32(23):3249-3262. doi: 10.1093/hmg/ddad144. PMID: 37656183Free PMC Article

Clinical prediction guides

Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant.
Beckmann NB, Miller WP, Dietrich MS, Orchard PJ
Child Neuropsychol 2018 Oct;24(7):986-998. Epub 2017 Sep 21 doi: 10.1080/09297049.2017.1380176. PMID: 28934891
Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
Warren DJ, Connolly DJ, Wilkinson ID, Sharrard MJ, Griffiths PD
Dev Med Child Neurol 2007 Feb;49(2):135-9. doi: 10.1111/j.1469-8749.2007.00135.x. PMID: 17254002
Intrathecal IgA synthesis in X-linked cerebral adrenoleukodystrophy.
Korenke GC, Reiber H, Hunneman DH, Hanefeld F
J Child Neurol 1997 Aug;12(5):314-20. doi: 10.1177/088307389701200505. PMID: 9378899

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG Algorithm, 2023
      ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
    • AAP, 2021
      Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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