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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

Carrier screening for Krabbe disease in an isolated inbred community.
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
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
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
Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD
Mol Genet Metab 2017 Jul;121(3):271-278. Epub 2017 May 22 doi: 10.1016/j.ymgme.2017.05.015. PMID: 28579020Free PMC Article

Diagnosis

Carrier screening for Krabbe disease in an isolated inbred community.
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
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
Spontaneous Third Ventriculostomy in Krabbe Disease.
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
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

Therapy

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
Serial MRI and CT findings in infantile Krabbe disease.
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

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
Midbrain morphology reflects extent of brain damage in Krabbe disease.
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
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

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    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
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      Related Medical Subject Headings
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