Krabbe Disease

Description

Krabbe disease 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Krabbe Disease

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia

And another 73 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available KRABBE DISEASE have a estimated birth prevalence of 0.7 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Krabbe Disease Is also known as gcl, galc deficiency, galactosylceramide beta-galactosidase deficiency, globoid cell leukodystrophy, galactocerebrosidase deficiency, globoid cell leukoencephalopathy, gld.

Researches and researchers

Doctors, researchs, and experts related to Krabbe Disease extracted from public data.

Krabbe Disease Experts map



Current Researchs and researchers

  • LYON — Dr Marie-Thérèse VANIER

    Coordinator of research network

    • Institution/s:
      — INSERM U 820, Faculté de médecine - RTH Laënnec
    • Research area/topic::

      Réseau sur les maladies de surcharge lysosomales


  • ROSTOCK — Pr Arndt ROLFS

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Centogene AG
    • Research area/topic::

      Biomarker for Krabbe Disease (BioKrabbe): An International, multicentre, epidemiological protocol


  • MILANO — Dr Eugenio MONTINI

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Dipartimento di Biotecnologie - Divisione di Neuroscienze, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Vector safety studies


  • MILANO — Dr Angela GRITTI

    Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Research area/topic::

      Combined approaches based on gene transfer and neural stem cells (NSC) for Metachromatic leukodystrophy and Globoid cell leukodystrophy


  • MILANO — Dr Alessandra BIFFI

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Research area/topic::

      Hematopietic stem cell gene therapy for the treatment of globoid cell leukodystrophy


  • CAMBRIDGE — Dr Janet E DEANE

    Investigator of research project

    • Institution/s:
      — Cambridge Institute for Medical Research, Cambridge University
    • Research area/topic::

      Glycosphingolipid recycling in health and disease: the GALC-SapA lipid processing complex



Mendelian

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Krabbe Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
GALC Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALC
Specificity
100 %
Genes
100 %
GALC Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GALC
Specificity
100 %
Genes
100 %
GALC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GALC
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Krabbe Disease.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

GALC
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %

We have 77 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA PORENCEPHALY 1; POREN1 METHYLMALONIC ACIDURIA, cblB TYPE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC

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