Early Infantile Krabbe Disease
Classic Infantile Krabbe disease is the most severe form affecting ~85-90% of all cases.1 As with many lysosomal storage disorders, babies may appear normal for the first few months of life then begin to develop noticeable symptoms. Early Infantile Krabbe disease is the most common and most severe form of Krabbe. Onset of symptoms of the Early Infantile form appear clinically between 0-13 months of age. If children are not diagnosed through a Newborn Screening State Program, treatment for this form largely involves supportive medical care as most have irreversible brain damage at time of diagnosis which disqualifies them as a candidate for a hematopoietic stem cell transplant (HSCT). However, if diagnosed through a state Newborn Screening Program or previous family history, children may be eligible for a stem cell transplant or have the opportunity to enroll in a gene therapy clinical trial for Krabbe disease. You can see more about Clinical Trials using Gene Therapy for Krabbe disease at this link.
Some of the key characteristics associated with Early Infantile Krabbe disease are:
- Extreme irritability; above and beyond colic
- Sensitivity to sound; easily startles
- Severe acid reflux; appears to not keep a majority of feedings down
- Significant decrease in daily consumption of formula\breast milk
- Loss of milestones; no longer tracks objects or giggles
Late Infantile Krabbe Disease
Symptoms of the Late Infantile form of Krabbe disease usually present between 13 and 36 months of age. Some early symptoms may present with vision disturbances, slurred speech, abnormal gait and loss of previously achieved milestones. In these cases, if diagnosed early enough, children may be eligible for a hematopoietic stem cell transplant to slow the disease progression. It is important to obtain treatment as quickly as possible once a diagnosis is obtained. Some patients may be diagnosed with this form through a state Newborn Screening Program. These patients will be monitored closely by Krabbe disease experts as to when treatments options should occur.
Juvenile and Adult Onset Krabbe Disease
In a relatively small number of patients, Krabbe disease does not appear until later in childhood, adolescence, or even in adulthood. There are variable ages when symptoms first appear along with variable degrees of health problems that may be developing. There is also a variable rate at which the disorder progresses. The course of Juvenile Krabbe disease usually presents with symptoms between 3 to 16 years of age. Adult Onset Krabbe disease is mostly associated with clinical deterioration later than 16 years of age and may not present until later in adulthood. Patients diagnosed with these forms of Krabbe disease may live for years especially when a hematopoietic stem cell transplant (HSCT) is performed. The clinical symptoms of Juvenile or Adult Onset Krabbe Disease are quite varied but some notable characteristics are as follows:
- Loss of manual dexterity and fine-motor skills; unable to button a shirt
- Peripheral neuropathy; complaints about tingling or burning sensation in hands or feet
- Lower limb weakness; appears to trip over their feet or fall more
- Deceased mental acuity; trouble remembering people’s names or simple words
If you are newly diagnosed with Krabbe disease, please reach out to KrabbeConnect's Patient Engagement Advocate on our toll free number 1-800-800-5509.
1 Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.