Sphingolipidoses are a group of lipid storage disorders which are being caused by a dysfunction in the break down of lipids containing ceramides. 

Sphingolipidoses are a group of lipid storage disorders caused by a problem in the breakdown of lipids containing ceramide. The main disorders within this group are

• Niemann-Pick A, B and C disease
• Fabry disease
• Krabbe disease
• Gaucher disease
• GM1 Gangliosidosis
• GM2 gangliosidoses (Tay-Sachs disease, Sandhoff disease and
• GM2 activator deficiency)
• Metachromatic leukodystrophy (MLD)
• Farber disease

Sphingolipidoses have an estimated incidence of about one in every 10,000 births. However, in some populations the incidence is significantly higher, such as in the Ashkenazi Jewish population. 

Sphingolipidoses are caused by a defect in the gene. Because of this error, patients lack an enzyme that causes lipids to accumulate in the body. Sphingolipidoses is a collective name for several disorders. Which type of sphingolipidosis a patients has, depends on which gene is affected. Sphingolipidoses are generally inherited in an autosomal recessive manner. This means that a child can only have the disease if the child has received the affected gene from both parents. The exception is Fabry disease. This is a recessive X-linked disorder, meaning the condition is transmitted primarily to boys. The affected gene can also be transmitted to girls. They are then carriers of the disease but do not develop symptoms.

The symptoms and consequences of sphingolipidoses vary greatly from one type to another. In our center, we see patients with the following types of sphingolipidosis: 

Niemann-Pick disease type C
Niemann-Pick disease type C can present at different ages. In the early infantile form, babies develop delayed motor development and hypotonia, followed by spasticity and cognitive decline. Most children with the early-infantile form do not learn to walk and die before the age of six. The late-infantile form of the disease often presents with delayed speech and language development, neurological problems such as ataxia, gait problems, clumsiness and finally cognitive problems. Children with the late-infantile form die between the ages of 7 and 14. In the juvenile form, the disease presents itself between the ages of 5 and 12. Children have learning problems at school including with writing and with attention. In addition, patients may develop symptoms of dysphagia, dysarthria, dementia, action dystonia and spasticity with severe swallowing problems. The age of death varies widely, with some patients reaching 30 years. In the adolescent or adult form of Nieman-Pick type C, neurological problems such as ataxia, dystonia, dysarthria, a movement disorder, cognitive and/or psychiatric problems and dementia develop between the ages of 15 and 60. 

Krabbe disease
Krabbe disease can also present at different ages. In the early-infantile form, babies appear to develop normally in the first few months. Between 3 and 6 months, the first symptoms appear such as sudden irritability, excessive crying, increased muscle tone and a delay in development. In the following months, feeding problems may develop, the baby may suffer from failure symptoms and blindness. In the late-infantile form, the above symptoms develop from 6 months to 3 years of age with rapid progression and patients die within 2 years. In juvenile form, symptoms present between the ages of 4 and 8 years. Complaints consist of muscle weakness and spasms and decline in mental ability after onset of symptoms. Progression of this form is slower, but patients will also die prematurely in this form. The adult form presents after the age of 20 and is relatively rare. In the adult form, patients eventually develop the same symptoms as in the earlier forms, but the disease progression is slower.
 
Farber disease 
Farber disease is very rare and has widely varying symptoms. The disease presents frequently with painful swelling of joints, deformations and contractures. Neurological symptoms vary widely from mild to psychomotor deterioration and epilepsy. Farber disease can present at various ages from birth to adulthood.

If the doctor suspects that you or your child may have sphingolipidosis, he or she will do a numerous of tests to make the diagnosis. The following tests maybe involved. 

The treatment of sphingolipidosis depends on which disease you or your child has. Patients with Niemann Pick disease type C are treated with the drug Miglustat which provides stabilization of neurological symptoms. For Krabbe disease, currently stem cell transplantation (HSCT or hematopoietic stem cell transplantation) is the only treatment. However, this treatment is only effective if applied in the first month of life before the first symptoms of the disease appear or above 12 months with very mild symptoms. Farber disease is not currently treatable. The focus of treatment is to relieve symptoms by providing supportive care in the form of physical therapy, occupational therapy, speech therapy, rehabilitative care and medication. Your treating physician will review treatment options with you and can answer any questions you may have.

Patients with any of the forms of sphingolipidosis will need to be followed throughout their lives. Because patients deal with a variety of symptoms, the patient will see different specialists. 

Our scheduling coordinator will schedule appointments for you. To minimize hospital visits for you and/or your child, we will try to schedule appointments with different specialists on the same day whenever possible. 

Please visit our team page to meet our specialists.