Mucopolysaccharidosis type I (MPS I or Hurler syndrome)

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type I (MPS I), a condition that affects many parts of the body. This disorder was once 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 the severe and attenuated types.
Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally begin to show other signs and symptoms of the disorder within the first year of life, while those with the attenuated form have milder features that develop later in childhood.
Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). 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 clear covering of the eye (cornea), which can cause significant vision loss. Affected individuals may also have hearing loss and recurrent ear infections.
Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord.
While both forms of MPS I can affect many different organs and tissues, people with severe MPS I experience a decline in intellectual function and a more rapid disease progression. Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress). Children with this form of the disorder usually have a shortened lifespan, sometimes living only into late childhood. Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Some people with the attenuated type have learning disabilities, while others have no intellectual impairments. Heart disease and airway obstruction are major causes of death in people with both types of MPS I.

[@bellafontaethe1440]

Hello my name is Eddie Bell Jr. I was diagnosed with Hurler Scheie syndrome or mps1 the year 1987 I was 5 years old going on 6. I've been suffering from this over 30 years. It been good times and also been bad times. My mother been by my side along the way. It's inspiring to see you all doing RUclips videos. I've been involved with genzyme programs. The Wish Foundation .My mother been my biggest supporter.

[@gregphilipmusic]

Thanks very interesting! I liked it having no fancy editing of the video. Just straightforward presentation of information.

[@saharfashionvlog2870]

My kid mps

[@sumairakhurram7]

Aoa sister my son also diagnose MPs me also from Pakistan can you help me please

[@dejavugaming666]

How old is your son ? ​@@sumairakhurram7

[@saharfashionvlog2870]

I am in Pakistan plz help me sis

[@dejavugaming666]

How old is your son ? Did the doctor looked for possibility of enzyme replacement therapy ? I also do research in MPS I H

[@user-ni2zi9xi7v]

​@@dejavugaming666I am from bangladesh.i have two daughters.my elder daughter is healthy.but my little daughters have mps hurler syndrome.i want to have baby again.if I take a baby again is it possible to get the baby and hurler syndrome? please reply