Simplifying Therapy for MPS IDiplomat Specialty Infusion Group supports patients throughout treatment.
MPS I is an inherited disorder caused by low or absent levels of an enzyme called alpha-L-iduronidase. Without enough of this enzyme, the body is unable to break down certain sugar molecules in the body, called glycosaminoglycans (GAGs). This causes GAGs to build to toxic levels in cells throughout the body, keeping various organ systems from functioning and developing normally. This can include bones, joints, brain, spinal cord, heart, spleen, or liver.
MPS I used to be divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into two types: severe and attenuated (reduced severity).
- Symptoms of severe MPS I generally present within the first six to twelve months after birth.
- Individuals with attenuated MPS I have milder features that may not present until later in childhood.
Severe MPS I occurs in approximately one in 100,000 newborns. Attenuated MPS I is less common and occurs in about one in 500,000 newborns.
GAGs were originally called mucopolysaccharides, which is where this condition gets its name.
For drug information, click here.
Prescriber? Find enrollment forms here.
What causes MPS I?
MPS I is a genetic condition – people inherit it from their parents. To have the condition, a child must get two copies of the altered MPS I gene (IDUA) — one from each parent. If they only get the altered gene from one parent, they can be a carrier of MPS I without having any symptoms themselves.
The IDA gene controls production of the alpha-L-iduronidase enzyme. The lack of enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders.
You can’t catch MPS I from someone, and you don’t get it from foods you eat or substances in your environment.
What are the symptoms of MPS I?
Symptoms of MPS I vary depending on the type of MPS I, age of onset, when a child is first treated, and how they respond to treatment.
Children with MPS I often have no signs or symptoms of the condition at birth, although some hav soft “out-pouches” (hernias) around the belly-button or lower abdomen. Since these can be common in children, they may not lead to a diagnosis of MPS I.
Severe forms of MPS I usually cause delayed or impaired physical and mental development. Attenuated MPS I does not cause the same mental impairments. Some may develop learning disabilities later in life, while others will not. Attenuated MPS I may cause other symptoms similar to the severe form, though they typically develop more slowly.
Individuals with MPS I may have distinctive facial features (sometimes described as "coarse"); a large head; a buildup of fluid in the brain; heart valve abnormalities; and an enlargement of the liver, spleen, tongue, lips, and earlobes. Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).
People with MPS I often develop clouding of the cornea, which can cause significant vision loss. They may also have hearing loss and recurrent ear infections.
Most people with the severe form of the disorder also have growth delays and multiple skeletal abnormalities, resulting in short stature and joint deformities that affect mobility. Some children can develop carpal tunnel syndrome. Narrowing of the spinal canal in the neck can compress and damage the spinal cord.
Individuals with severe MPS I may live only into late childhood. Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Heart disease and airway obstruction are major causes of death in people with both types of MPS I.
How does Diplomat help people with MPS I?
The treatment for MPS I is called enzyme replacement therapy, or ERT. This therapy is administered by intravenous infusion — put directly into a vein every 2 weeks. While there is no cure for MPS I, ERT can make the condition more manageable.
Diplomat Specialty Infusion Group provides home infusion therapy for individuals with MPS I. We can help coordinate in-home nursing services as well.
To alleviate symptoms of MPS I, doctors may recommend other treatments and supportive devices, or refer patients to various specialists.
What resources are available for people with MPS I?
Remember: The information here — and on linked sites — is not meant to replace advice, care, or a diagnosis from your physician. If you have questions about your condition, please ask your provider.
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.
How can Diplomat help me?We’ll answer your questions about Diplomat Specialty Infusion Group.
TALK WITH US
Upcoming TreatmentsWe keep you informed about new specialty medications.
Diplomat actively monitors specialty medications in the government's review and approval process. You can search our database to see if there will be new treatment options for your condition you can discuss with your doctor.
ResourcesDiplomat connects you with the support you need. We do much more than just fill your prescriptions. Diplomat Specialty Infusion Group provides a number of resources to support you throughout treatment.
Financial AssistanceWe’ll look for ways to help you afford therapy.
There are many ways to get help paying for specialty medications. We'll seek third-party programs and support the application process from start to finish.