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Adult Krabbe disease

MedGen UID:
120623
•Concept ID:
C0268252
•
Disease or Syndrome
Synonyms: Late Onset Globoid Cell Leukodystrophy; Late-Onset Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Late-Onset
SNOMED CT: Adult type Krabbe disease (41142009); Late onset Krabbe disease (41142009); Globoid cell leucodystrophy late onset (41142009); Galactocerebroside beta-galactosidase deficiency - late onset (41142009); Globoid cell leukodystrophy, late-onset (41142009); Adult-type globoid cell leukodystrophy (41142009); Adult-type Krabbe's disease (41142009)
 
Monarch Initiative: MONDO:0016091
Orphanet: ORPHA206448

Definition

A Krabbe disease that occurs in an adult. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult Krabbe disease
Follow this link to review classifications for Adult Krabbe disease in Orphanet.

Professional guidelines

PubMed

Differences at Presentation and Treatment of Testicular Cancer in Hispanic Men: Institutional and National Hospital-based Analyses.
Woldu SL, Aydin AM, Rao AV, Hutchinson RC, Singla N, Clinton TN, Krabbe LM, Passoni NM, Raj GV, Miller DS, Amatruda JF, Sagalowsky AI, Lotan Y, Arriaga Y, Margulis V, Bagrodia A
Urology 2018 Feb;112:103-111. Epub 2017 Dec 6 doi: 10.1016/j.urology.2017.08.059. PMID: 29079210
Insights into the Pathogenesis and Treatment of Krabbe Disease.
Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:689-96. PMID: 27491217
Newborn screening for Krabbe disease: the New York State model.
Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP
Pediatr Neurol 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010. PMID: 19302934

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, mildly elevated psychosine, Krabbe Disease (late-onset form), 2022

American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022

Recent clinical studies

Etiology

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Said G, Vanier MT, Sedel F
J Inherit Metab Dis 2013 Sep;36(5):859-68. Epub 2012 Nov 30 doi: 10.1007/s10545-012-9560-4. PMID: 23197103

Diagnosis

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Said G, Vanier MT, Sedel F
J Inherit Metab Dis 2013 Sep;36(5):859-68. Epub 2012 Nov 30 doi: 10.1007/s10545-012-9560-4. PMID: 23197103
MR imaging and proton MR spectroscopy in adult Krabbe disease.
Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal BS, Wenger DA
AJNR Am J Neuroradiol 2000 Sep;21(8):1478-82. PMID: 11003282Free PMC Article

Therapy

Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.
Fukazawa R, Takeuchi H, Oka N, Shibuya T, Sakai N, Fujii A
Intern Med 2021 Apr 15;60(8):1283-1286. Epub 2020 Nov 16 doi: 10.2169/internalmedicine.6094-20. PMID: 33191329Free PMC Article

Prognosis

Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.
Fukazawa R, Takeuchi H, Oka N, Shibuya T, Sakai N, Fujii A
Intern Med 2021 Apr 15;60(8):1283-1286. Epub 2020 Nov 16 doi: 10.2169/internalmedicine.6094-20. PMID: 33191329Free PMC Article
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Said G, Vanier MT, Sedel F
J Inherit Metab Dis 2013 Sep;36(5):859-68. Epub 2012 Nov 30 doi: 10.1007/s10545-012-9560-4. PMID: 23197103

Clinical prediction guides

Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.
Laule C, Vavasour IM, Shahinfard E, Mädler B, Zhang J, Li DKB, MacKay AL, Sirrs SM
J Neuroimaging 2018 May;28(3):252-255. Epub 2018 Feb 26 doi: 10.1111/jon.12502. PMID: 29479774
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Said G, Vanier MT, Sedel F
J Inherit Metab Dis 2013 Sep;36(5):859-68. Epub 2012 Nov 30 doi: 10.1007/s10545-012-9560-4. PMID: 23197103

Supplemental Content

Table of contents

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

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, mildly elevated psychosine, Krabbe Disease (late-onset form), 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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