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Late-infantile/juvenile Krabbe disease

MedGen UID:
830969
Concept ID:
CN200855
Disease or Syndrome
Synonyms: Krabbe disease, late-onset; late-infantile/juvenile Krabbe disease
 
Monarch Initiative: MONDO:0016090
Orphanet: ORPHA206443

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLate-infantile/juvenile Krabbe disease
Follow this link to review classifications for Late-infantile/juvenile Krabbe disease in Orphanet.

Recent clinical studies

Diagnosis

Iacono S, Del Giudice E, Leon A, La Bella V, Spataro R
Neurogenetics 2022 Apr;23(2):157-165. Epub 2022 Jan 10 doi: 10.1007/s10048-021-00682-1. PMID: 35013804
Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Troy E, Escolar M, Maloney J, Neuberger I, Stence N, Baker PR 2nd
J Child Neurol 2020 Sep;35(10):649-653. Epub 2020 Jun 2 doi: 10.1177/0883073820924985. PMID: 32484059
Zhuang S, Kong L, Li C, Chen L, Zhang T
BMC Neurol 2019 Jun 11;19(1):122. doi: 10.1186/s12883-019-1345-z. PMID: 31185936Free PMC Article
Krägeloh-Mann I, Harzer K, Rostásy K, Beck-Wödl S, Bornemann A, Böhringer J, Bevot A, Beck V, Merkel G, Pechan M
Eur J Paediatr Neurol 2017 May;21(3):522-529. Epub 2017 Jan 6 doi: 10.1016/j.ejpn.2016.12.012. PMID: 28109651
Hagberg B
Neuropediatrics 1984 Sep;15 Suppl:11-5. doi: 10.1055/s-2008-1052374. PMID: 6546163

Prognosis

Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Troy E, Escolar M, Maloney J, Neuberger I, Stence N, Baker PR 2nd
J Child Neurol 2020 Sep;35(10):649-653. Epub 2020 Jun 2 doi: 10.1177/0883073820924985. PMID: 32484059
Krägeloh-Mann I, Harzer K, Rostásy K, Beck-Wödl S, Bornemann A, Böhringer J, Bevot A, Beck V, Merkel G, Pechan M
Eur J Paediatr Neurol 2017 May;21(3):522-529. Epub 2017 Jan 6 doi: 10.1016/j.ejpn.2016.12.012. PMID: 28109651

Clinical prediction guides

Krägeloh-Mann I, Harzer K, Rostásy K, Beck-Wödl S, Bornemann A, Böhringer J, Bevot A, Beck V, Merkel G, Pechan M
Eur J Paediatr Neurol 2017 May;21(3):522-529. Epub 2017 Jan 6 doi: 10.1016/j.ejpn.2016.12.012. PMID: 28109651
Hagberg B
Neuropediatrics 1984 Sep;15 Suppl:11-5. doi: 10.1055/s-2008-1052374. PMID: 6546163

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    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

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