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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

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
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
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

Ezer S, Zuckerman S, Segel R, Zlotogora J
Am J Med Genet A 2022 Sep;188(9):2555-2559. Epub 2022 Jul 1 doi: 10.1002/ajmg.a.62882. PMID: 35775617
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
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
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
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

Ezer S, Zuckerman S, Segel R, Zlotogora J
Am J Med Genet A 2022 Sep;188(9):2555-2559. Epub 2022 Jul 1 doi: 10.1002/ajmg.a.62882. PMID: 35775617
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
Zuccoli G, Kim A, Poe M, Escolar ML
Pediatr Neurol 2020 Jul;108:99-105. Epub 2019 Dec 2 doi: 10.1016/j.pediatrneurol.2019.11.014. PMID: 32197817Free PMC Article
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
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

Therapy

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:689-96. PMID: 27491217
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
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
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

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
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
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
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
Farley TJ, Ketonen LM, Bodensteiner JB, Wang DD
Pediatr Neurol 1992 Nov-Dec;8(6):455-8. doi: 10.1016/0887-8994(92)90009-n. PMID: 1476576

Clinical prediction guides

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
Zuccoli G, Narayanan S, Panigrahy A, Poe MD, Escolar ML
Neuroradiology 2015 Jul;57(7):739-45. Epub 2015 Apr 10 doi: 10.1007/s00234-015-1523-7. PMID: 25859833
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
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
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

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

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