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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

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S
Eur J Paediatr Neurol 2024 Mar;49:141-154. Epub 2024 Mar 9 doi: 10.1016/j.ejpn.2024.03.003. PMID: 38554683
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Hwang N, Kim SM, Kim YG, Ha C, Lee J, Choi BO, Sung WJ, Kim SH, Kim YM, Lee YW, Kim J, Kim JW, Jang JH, Lee J, Park HD
Clin Genet 2024 Aug;106(2):150-160. Epub 2024 Mar 22 doi: 10.1111/cge.14523. PMID: 38515343
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

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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