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Infantile Krabbe disease

MedGen UID:
148270
•Concept ID:
C0751273
•
Disease or Syndrome
Synonyms: Classic Globoid Cell Leukodystrophy; Early Onset Globoid Cell Leukodystrophy; Early-Onset Globoid Cell Leukodystrophy; Infantile Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Classic; Leukodystrophy, Globoid Cell, Early-Onset; Leukodystrophy, Globoid Cell, Infantile
SNOMED CT: Globoid cell leukodystrophy, early onset (189979005); Galactosylceramide lipidosis (189979005); Familial infantile diffuse brain sclerosis (189979005); Galactocerebroside beta-galactosidase deficiency - early onset (238030005); Infantile Krabbe disease (238030005)
 
Monarch Initiative: MONDO:0016089
Orphanet: ORPHA206436

Term Hierarchy

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

Professional guidelines

PubMed

Ethical issues with testing and treatment for Krabbe disease.
Ehmann P, Lantos JD
Dev Med Child Neurol 2019 Dec;61(12):1358-1361. Epub 2019 May 15 doi: 10.1111/dmcn.14258. PMID: 31090922
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ
Orphanet J Rare Dis 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. PMID: 29391017Free PMC Article
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, elevated psychosine, Krabbe Disease (infantile form), 2022

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

Recent clinical studies

Etiology

Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.
Greco MR, Lopez MA, Beltran-Quintero ML, Tuc Bengur E, Poe MD, Escolar ML
Ann Clin Transl Neurol 2024 Dec;11(12):3064-3080. Epub 2024 Nov 5 doi: 10.1002/acn3.52114. PMID: 39499628Free PMC Article
Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.
Page KM, Ream MA, Rangarajan HG, Galindo R, Mian AY, Ho ML, Provenzale J, Gustafson KE, Rubin J, Shenoy S, Kurtzberg J
Blood Adv 2022 May 10;6(9):2947-2956. doi: 10.1182/bloodadvances.2021006094. PMID: 35042231Free PMC Article
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
Yoon IC, Bascou NA, Poe MD, Szabolcs P, Escolar ML
Blood 2021 Apr 1;137(13):1719-1730. doi: 10.1182/blood.2020005477. PMID: 33150395Free PMC Article
Ethical issues with testing and treatment for Krabbe disease.
Ehmann P, Lantos JD
Dev Med Child Neurol 2019 Dec;61(12):1358-1361. Epub 2019 May 15 doi: 10.1111/dmcn.14258. PMID: 31090922
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ
Orphanet J Rare Dis 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. PMID: 29391017Free PMC Article

Diagnosis

Ethical issues with testing and treatment for Krabbe disease.
Ehmann P, Lantos JD
Dev Med Child Neurol 2019 Dec;61(12):1358-1361. Epub 2019 May 15 doi: 10.1111/dmcn.14258. PMID: 31090922
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ
Orphanet J Rare Dis 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. PMID: 29391017Free PMC Article
Intracranial optic nerve enlargement in infantile Krabbe disease.
Shah S, Freeman E, Wolf V, Murthy S, Lotze T
Neurology 2012 May 15;78(20):e126. doi: 10.1212/WNL.0b013e3182563bad. PMID: 22585439
Infantile Krabbe disease.
Korn-Lubetzki I, Nevo Y
Arch Neurol 2003 Nov;60(11):1643-4. doi: 10.1001/archneur.60.11.1643. PMID: 14623741
Infantile Krabbe disease: complementary CT and MR findings.
Choi S, Enzmann DR
AJNR Am J Neuroradiol 1993 Sep-Oct;14(5):1164-6. PMID: 8237697Free PMC Article

Therapy

Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.
Greco MR, Lopez MA, Beltran-Quintero ML, Tuc Bengur E, Poe MD, Escolar ML
Ann Clin Transl Neurol 2024 Dec;11(12):3064-3080. Epub 2024 Nov 5 doi: 10.1002/acn3.52114. PMID: 39499628Free PMC Article
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
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M
Genet Med 2016 Dec;18(12):1235-1243. Epub 2016 May 12 doi: 10.1038/gim.2016.35. PMID: 27171547
Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease.
Udow S, Bunge M, Ryner L, Mhanni AA, Salman MS
Pediatr Neurol 2012 Oct;47(4):299-302. doi: 10.1016/j.pediatrneurol.2012.06.015. PMID: 22964446
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease.
Beslow LA, Schwartz ES, Bönnemann CG
Pediatr Radiol 2008 Jun;38(6):694-6. Epub 2008 Feb 12 doi: 10.1007/s00247-008-0763-7. PMID: 18265968

Prognosis

Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P
Genet Med 2018 Aug;20(8):847-854. Epub 2017 Nov 9 doi: 10.1038/gim.2017.194. PMID: 29120458
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.
Gupta A, Poe MD, Styner MA, Panigrahy A, Escolar ML
Neuroimage Clin 2015;7:792-8. Epub 2014 Sep 26 doi: 10.1016/j.nicl.2014.09.014. PMID: 25844309Free PMC Article
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL
Pediatr Neurol 2011 Sep;45(3):141-8. doi: 10.1016/j.pediatrneurol.2011.05.007. PMID: 21824559
Weighing the evidence for newborn screening for early-infantile Krabbe disease.
Kemper AR, Knapp AA, Green NS, Comeau AM, Metterville DR, Perrin JM
Genet Med 2010 Sep;12(9):539-43. doi: 10.1097/GIM.0b013e3181e85721. PMID: 20601893
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation.
Escolar ML, Poe MD, Martin HR, Kurtzberg J
Pediatrics 2006 Sep;118(3):e879-89. Epub 2006 Aug 21 doi: 10.1542/peds.2006-0747. PMID: 16923928

Clinical prediction guides

Long-Term Functional Outcomes after Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease.
Allewelt H, Taskindoust M, Troy J, Page K, Wood S, Parikh S, Prasad VK, Kurtzberg J
Biol Blood Marrow Transplant 2018 Nov;24(11):2233-2238. Epub 2018 Jun 20 doi: 10.1016/j.bbmt.2018.06.020. PMID: 29933067
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P
Genet Med 2018 Aug;20(8):847-854. Epub 2017 Nov 9 doi: 10.1038/gim.2017.194. PMID: 29120458
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.
Gupta A, Poe MD, Styner MA, Panigrahy A, Escolar ML
Neuroimage Clin 2015;7:792-8. Epub 2014 Sep 26 doi: 10.1016/j.nicl.2014.09.014. PMID: 25844309Free PMC Article
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL
Pediatr Neurol 2011 Sep;45(3):141-8. doi: 10.1016/j.pediatrneurol.2011.05.007. PMID: 21824559
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation.
Escolar ML, Poe MD, Martin HR, Kurtzberg J
Pediatrics 2006 Sep;118(3):e879-89. Epub 2006 Aug 21 doi: 10.1542/peds.2006-0747. PMID: 16923928

Recent systematic reviews

Weighing the evidence for newborn screening for early-infantile Krabbe disease.
Kemper AR, Knapp AA, Green NS, Comeau AM, Metterville DR, Perrin JM
Genet Med 2010 Sep;12(9):539-43. doi: 10.1097/GIM.0b013e3181e85721. PMID: 20601893

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

    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
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      Related literature resources in PubMed

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