
Mucopolysaccharidosis Type I: Hurler Syndrome - Symptoms
Hurler syndrome is the most severe form of mucopolysaccharidosis type I, a hereditary lysosomal storage condition. Cells can't break down sugar molecules, which affects how they function. Symptoms are life-threatening, target your bones and organs, and could cause issues with cognitive development. Treatment increases life expectancy.
MPS I (Hurler Syndrome) - Boston Children's Hospital
What are the symptoms of Hurler syndrome? Newborns with the less severe subtype of MPS I may not show signs or symptoms of the disorder at birth. Those with severe MPS I may have clinical symptoms when they are born. Symptoms fall on a spectrum. Some children have only a few, mild symptoms.
Mucopolysaccharidosis Type 1 (MPS 1) - Children's Hospital of Philadelphia
Children with MPS 1 often have no signs or symptoms of the condition at birth. However, babies with severe MPS 1 generally begin to show symptoms within the first year of life. Children with a more mild form of the disease tend to show symptoms later in childhood.
MPS I Signs & Symptoms | MPS I - Patients
Learn more about the signs and symptoms of MPS I that might occur in people with varying degrees of the disease and affect multiple organs in the body, which can result in different symptoms.
Mucopolysaccharidosis I (MPS I) - Hurler Syndrome and Scheie ... - WebMD
Symptoms. Many babies with MPS I don't show any signs of the disease at first. For those with less severe MPS I, symptoms show up later in childhood.
Hurler syndrome | About the Disease | GARD - Genetic and Rare Diseases …
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver …
Mucopolysaccharidosis Type 1 (MPS I): Causes and Symptoms
Mucopolysaccharidosis, type 1 (MPS I) is a genetic condition that affects how the body makes an enzyme called alpha-iduronidase. In this handout, you will learn about MPS I and its symptoms and causes.
Mucopolysaccharidoses | National Institute of Neurological …
Jul 19, 2024 · Brain and nervous system symptoms in MPS include damage to neurons (or neurodegeneration), pain, and movement problems. Affected people may have average intellect or may have profound intellectual disabilities, may experience developmental delays, or may have severe behavioral problems. Many people have problems with:
What is MPS I Disease | MPS I - Patients
Mucopolysaccharidosis type I (MPS I) is a rare, inherited, genetic condition that can affect both children and adults, male or female. MPS I is caused by disease-causing changes in the IDUA gene. It has a wide range of symptoms because it can affect many parts of …
Mucopolysaccharidoses (MPS) - Johns Hopkins Medicine
What are the symptoms of mucopolysaccharidoses? Individuals with mucopolysaccharidoses are short-statured and have stiff joints, especially in the hands. Some types of the disorders may also cause corneal clouding, and progressive intellectual …