Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLate-infantile/juvenile Krabbe disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Hereditary Central Nervous System Demyelinating Diseases
        Galactosylceramide beta-galactosidase deficiency
        Late-infantile/juvenile Krabbe disease

Follow this link to review classifications for Late-infantile/juvenile Krabbe disease in Orphanet.

Professional guidelines

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

Diagnosis

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.

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

Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.

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

GALC mutations in Chinese patients with late-onset Krabbe disease: a case report.

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: 31185936 Free PMC Article

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

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

Krabbe's disease: clinical presentation of neurological variants.

Hagberg B
Neuropediatrics 1984 Sep;15 Suppl:11-5. doi: 10.1055/s-2008-1052374. PMID: 6546163

See all (5)

Prognosis

Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.

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

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

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

See all (2)

Clinical prediction guides

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

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

Krabbe's disease: clinical presentation of neurological variants.

Hagberg B
Neuropediatrics 1984 Sep;15 Suppl:11-5. doi: 10.1055/s-2008-1052374. PMID: 6546163

See all (2)

Synonyms:	Krabbe disease, late-onset; late-infantile/juvenile Krabbe disease

Monarch Initiative:	MONDO:0016090
Orphanet:	ORPHA206443

MedGen

National Center for Biotechnology Information

Send to:

Late-infantile/juvenile Krabbe disease

Term Hierarchy

Professional guidelines

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

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Consumer resources

Reviews

Related information

Recent activity