Mucopolysaccharidosis I (MPS I) is a genetic disorder that hinders the production of alpha-L iduronidase protein in children. As the protein is essential to break down sugars, a lowered supply of alpha-L iduronidase in the body can lead to excessive sugars build up in the cells, thereby leading to many complications related to growth and cognitive abilities. There is no specific cure for the condition, but appropriate treatment and medications can help to ease the symptoms, slow down or limit its effects, and improve the quality of life.

Causes and Symptoms

MPS I can affect children in many different ways, which is why healthcare providers categorize the disorder under Hurler, Hurler-Scheie, and Scheie syndromes. The symptoms of the condition will depend on the severity of Mucopolysaccharidosis I and how it has progressed. Usually, infants do not show any signs indicating the disorder, but the symptoms may become more clear during the early childhood days. Children with mild or attenuated MPS I are often seen to develop the symptoms even more slowly.

In severe cases of MPS I, newborns can sometimes have symptoms such as:

  • A stockier build than normal
  • Larger head or bulging forehead
  • Thick lips and a big tongue
  • Short or flat nose with large nostrils
  • Widely spaced teeth
  • Thick and rough skin
  • Short and wide hands with curving fingers
  • Genu valgum or knock knees
  • Curved spine

In the later stages, MPS I can have many other symptoms such as:

  • Optical issues, cloudy eyes
  • Difficulty to see in bright light or during night
  • Dental problems
  • Bad breath
  • Weak neck
  • Airway infections
  • Breathing problems
  • Sinus infections
  • Sleep apnea
  • Ear infections and hearing loss
  • Tingling and numbness in the fingers
  • Heart disorders
  • Stiff joints
  • Hernias
  • Diarrhea
  • Enlarged liver or spleen

Note that not all children will experience all the symptoms stated above. Generally, it is seen that children with the milder form of MPS I do not experience as many physical problems as that seen in severe cases. Sometimes, the cognitive health also remains normal in children with attenuated MPS I, and they can perform their day-to-day tasks without any difficulties. However, the disease can progress to its worst state if the early signs are ignored and no measures are taken to treat the condition. It takes a skilled prenatal care professional to recognize these symptoms pre-birth.

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    About the Author

    Dr. Ghassan M. Al-Jazayrly, MD

    A graduate of University of Aleppo Faculty of Medicine, Dr. Al-Jazayrly or, as he is colloquially known: Dr. AJ, is an oncologist and hematologist of a Complete Care Community Health Center (CCCHC) with more than 36 years of experience. In recent years, he’s been involved with a non profit organization known as Every Woman Counts (EWC) which provides free breast and cervical cancer screening and diagnostic services to California’s underserved populations in order to eliminate health disparities for low-income individuals.

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