People with MPS disease can experience complications with their eyes. Specific features for each MPS disease are below.
Liver, spleen and abdomen
MPS I Hurler, Hurler-Scheie and Scheie
For children with Hurler disease the liver and spleen become enlarged because they are storing mucopolysaccharides. The enlarged liver does not cause problems or lead to liver failure however the size can interfere with eating and breathing. The enlarged liver and spleen coupled with weakness of the tummy (abdominal) muscles can lead to a hernia. A hernia is when an organ, such as the intestine, pushes through a weak spot in the muscle that holds it in place. Treatment options differ depending on the type of hernia, in some cases surgery is needed. People with Hurler-Scheie and Scheie disease are less likely to have hernias.
Many children with MPS I suffer periodically from loose stools and diarrhoea. Occasionally it is caused by severe constipation and leakage of loose stools from behind the solid mass of faeces. The problem may disappear as the child gets older but it can be worsened by antibiotics prescribed for other problems. Speak with your doctor to establish the cause if the problem persists. If there is diarrhoea, which is not secondary to constipation, medication can be very useful in addition to a carefully managed diet.
Constipation may become a problem as a child gets older as they may become less active and the muscles weaken. If managing the diet does not help or is not possible, speak with your doctor to determine which medications are suitable.
MPS II Hunter
For children with MPS II the liver and spleen become enlarged because they are storing mucopolysaccharides. The enlarged liver does not cause problems or lead to liver failure however the size can interfere with eating and breathing. The enlarged liver and spleen coupled with weakness of the tummy (abdominal) muscles can lead to a hernia. A hernia is when an organ, such as the intestine, pushes through a weak spot in the muscle that holds it in place. Treatment options differ depending on the type of hernia, in some cases surgery is needed.
Many children with MPS II suffer periodically from loose stools and diarrhoea. Occasionally it is caused by severe constipation and leakage of loose stools from behind the solid mass of faeces. The problem may disappear as the child gets older but it can be worsened by antibiotics prescribed for other problems. Speak with your doctor to establish the cause if the problem persists. If there is diarrhoea, which is not secondary to constipation, medication can be very useful in addition to a carefully managed diet.
Constipation may become a problem as a child gets older as they may become less active and the muscles weaken. If managing the diet does not help or is not possible, speak with your doctor to determine which medications are suitable.
MPS III Sanfilippo
The liver and spleen are organs within the tummy (abdominal) area of the body. An enlarged liver and spleen can develop from the build-up of mucopolysaccharide deposits (GAGs). Although these organs can continue to function normally, the abdomen may be distended, and the pressure may affect eating and breathing.
Managing the nutrition of an individual with MPS III is very important as their needs will change significantly over time. It is important that your child is referred to a dietician and speech and language therapist to assess their needs.
Digestion
Progressive digestive issues in MPS III can be very disruptive and difficult to manage. Diarrhoea (loose stools) is a common feature in people with MPS III that can become increasingly problematic as time goes on. Treatment of this can be difficult to balance as constipation can also be a feature of the condition. In the later stages of the condition, the body’s ability to process and absorb nutrients is impacted. Maintaining nutrition becomes a focus and individuals will require intensive input from a dietician to manage feeding. It is important for parents, carers and clinical teams to monitor weight and make changes to feeding programmes as necessary.
Feeding
Individuals with MPS III will develop progressive feeding difficulties. Sensory issues can have an impact on an individual’s food preferences. If this is causing difficulties in maintaining nutrition (your child is losing weight),a dietitian may be able to provide strategies to support you.
Swallowing
One of the most significant changes is the deterioration in the ability to swallow. Parents and carers may notice that their child is slow to swallow mouthfuls of food or is coughing during their meals. This increases the risk of food entering the lungs and causing infection. It is important that the individual is referred to a speech and language therapist (SALT) to have their swallow assessed. As the condition progresses, you may notice that the person with MPS III is having difficulty eating and drinking. A video fluoroscopy is a special kind of x-ray that looks at your ability to swallow safely. A SALT will also review the results and advise on types and textures of food and drink to avoid and set out a care plan as needed. Eventually, the individual's swallow will deteriorate significantly, and oral feeding will no longer be safe. It is likely to be necessary to insert a feeding tube to supplement nutrition and reduce the risk of chest infections. This may include surgical procedures such as a gastrostomy or jejunostomy.
Advice for professionals
We want to give you the tools to be able to learn about MPS, Fabry and related diseases in order for children with the condition to receive a faster diagnosis.
MPS IV Morquio
For children with MPS IV disease the liver and spleen become enlarged because they are storing mucopolysaccharides. The enlarged liver does not cause problems or lead to liver failure however the size can interfere with eating and breathing. The enlarged liver and spleen coupled with weakness of the tummy (abdominal) muscles can lead to a hernia. A hernia is when an organ, such as the intestine, pushes through a weak spot in the muscle that holds it in place. Treatment options differ depending on the type of hernia, in some cases surgery is needed.
Many children with MPS IV suffer periodically from loose stools and diarrhoea. Occasionally it is caused by severe constipation and leakage of loose stools from behind the solid mass of faeces. The problem may disappear as the child gets older but it can be worsened by antibiotics prescribed for other problems. Speak with your doctor to establish the cause if the problem persists. If there is diarrhoea, which is not secondary to constipation, medication can be very useful in addition to a carefully managed diet.
Constipation may become a problem as a child gets older as they may become less active and the muscles weaken. If managing the diet does not help or is not possible, speak with your doctor to determine which medications are suitable.
MPS VI Maroteaux-Lamy
For children with MPS VI disease the liver and spleen become enlarged because they are storing mucopolysaccharides. The enlarged liver does not cause problems or lead to liver failure however the size can interfere with eating and breathing. The enlarged liver and spleen coupled with weakness of the tummy (abdominal) muscles can lead to a hernia. A hernia is when an organ, such as the intestine, pushes through a weak spot in the muscle that holds it in place. Treatment options differ depending on the type of hernia, in some cases surgery is needed.
MPS VII Sly
For children with MPS VII disease the liver and spleen become enlarged because they are storing mucopolysaccharides. The enlarged liver does not cause problems or lead to liver failure however the size can interfere with eating and breathing.
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