If your baby has periods of constipation, your baby’s health care provider may recommend laxatives to be used very conservatively to relieve discomfort.Įnzyme replacement therapy (ERT) can be an effective treatment for symptoms of MPS I that do not involve the central nervous system (the brain and spinal cord). There is no diet that can prevent the storage of GAGs because they are actually created by the body. Children with mild to severe MPS I may develop a buildup of fluid in the brain (hydrocephaly), a surgery to relieve the pressure inside the skull may be recommended.Ī dietician can help you create a nutrition plan to help your baby control diarrhea and constipation, which may occur in those with severe MPS I. Hearing aids may be recommended for some individuals. Removal of the tonsils and adenoids and insertion of ventilating (ear) tubes can prevent some upper respiratory infections and may reduce hearing loss. Your child’s health care provider may recommend surgeries to improve your child’s quality of life. Consistent physical therapy early on can help preserve mobility and lessen pain and joint stiffness. Physical therapy is a very important part of treating the signs and symptoms of MPS I. There are many treatments your baby’s health care provider may recommend to address the signs of mucopolysaccharidosis type I (MPS I) and help your baby live a healthier life. Your baby’s doctor may also want to confirm the diagnosis with clinical genetic testing. High levels of sugars called glycosaminoglycans (GAGs) in the urine or deficient activity of the enzyme, alpha-L-iduronidase, in the blood may indicate that your baby has MPS I. Measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has MPS I. When a child has a lysosomal storage disorder, harmful amounts of certain substances build up in the body and enzymes that help the body breakdown sugars are either missing or have reduced activity. Because the harmful effects of untreated MPS I can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has a condition.įollow-up testing will involve checking your baby’s blood and urine for signs of MPS I. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. It is important to remember than an out-of-range screening result does not necessarily mean that your child has the condition. If your baby’s newborn screening result for mucopolysaccharidosis type I (MPS I) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your infant to have additional testing. If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment. Your baby’s doctor may ask you if your baby is showing any of the signs of mucopolysaccharidosis type I (see Early Signs below).
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