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Galactosylceramide beta-galactosidase deficiency(GCL; GLD; KRB)

MedGen UID:
44131
Concept ID:
C0023521
Disease or Syndrome
Synonyms: GALACTOCEREBROSIDASE DEFICIENCY; GALC DEFICIENCY; GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe Disease; Krabbe leukodystrophy; Leukodystrophy, Globoid Cell
SNOMED CT: Diffuse globoid body sclerosis (189979005); Galactosylceramide beta-galactosidase deficiency (192782005); Krabbe's leukodystrophy (192782005); Globoid cell leucodystrophy (192782005); Krabbe leucodystrophy (192782005); GCL - Globoid cell leucodystrophy (192782005); Krabbe's disease (192782005); Krabbe disease (192782005); Galactocerebroside beta-galactosidase deficiency (192782005); Diffuse globoid cell cerebral sclerosis (192782005)
Modes of inheritance:
 
GALC (14q31.3)
 
Monarch Initiative: MONDO:0009499
OMIM®: 245200
Orphanet: ORPHA487
Authors:

Additional descriptions

From OMIM
Krabbe disease (KRB) is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).  http://www.omim.org/entry/245200
From MedlinePlus Genetics
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.

The most common form of Krabbe disease, called the infantile form, usually begins before the age of 1. Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and delayed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. Because of the severity of the condition, individuals with the infantile form of Krabbe disease rarely survive beyond the age of 2.

Less commonly, Krabbe disease begins in childhood, adolescence, or adulthood (late-onset forms). Vision problems and walking difficulties are the most common initial symptoms in these forms of the disorder, however, signs and symptoms vary considerably among affected individuals. Individuals with late-onset Krabbe disease may survive many years after the condition begins.  https://medlineplus.gov/genetics/condition/krabbe-disease

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGalactosylceramide beta-galactosidase deficiency

Professional guidelines

PubMed

Anderson S
J Pediatr Health Care 2018 May-Jun;32(3):285-294. doi: 10.1016/j.pedhc.2017.04.016. PMID: 29678259
Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA
J Neurosci Res 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. PMID: 27638593
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium
Genet Med 2016 Mar;18(3):239-48. Epub 2016 Jan 21 doi: 10.1038/gim.2015.211. PMID: 26795590

Curated

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

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

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

Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

Recent clinical studies

Diagnosis

McKelvie P, Vine P, Hopkins I, Poulos A
Pathology 1990 Oct;22(4):235-8. doi: 10.3109/00313029009086670. PMID: 2091007

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, elevated psychosine, Krabbe Disease (infantile form), 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022
    • 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
    • AAP, 2021
      Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

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