Mucopolysaccharidoses
Most parents will never hear of mucopolysaccharidoses, better known as MPS, a group of several genetic conditions that are extremely rare. But for the children who are affected, symptoms can start early in life and may go undiagnosed or be misdiagnosed - Joseph Muenzer MD PhD
image by: MPS Society UK, here for those with rare diseases
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Spot The Early Signs
Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and therefore delaying actual diagnosis and treatment, or referring the patient to the wrong pediatric specialties causing further delays in the condition’s management chain.
Resources
MPS Disorders (Hunter / Hurler / Morquio) at a Glance
MPS disorders are the most common (1 in 25,000 births) of the LSDs, but there are more than 40 known types.
Mucopolysaccharidosis: A broad review
Clinical spectrum varies from mild systemic and ocular abnormalities with a normal life span to severe phenotype, fatal in the first few months of life.
What Are MPS Disorders?
Most parents will never hear of mucopolysaccharidoses, better known as MPS, a group of several genetic conditions that are extremely rare. But for the children who are affected, symptoms can start early in life and may go undiagnosed or be misdiagnosed.
What is the MPS family of diseases?
The mucopolysaccharidosis (MPS) diseases are a group of seven rare, genetic, metabolic disorders. They are often named after the person that first described the phenotype, resulting in a wide variety of disorder names, for example, Hurler, Hunter, Sanfilippo and Morquio. But when referred to by their MPS name, for example, MPS I, II, III and IV, they start to sound like a family of disorders.
Spot The Early Signs
The Spot The Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.
Morquiosity
Connecting and educating the Morquio A community.
HunterPatients.com
Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah-rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAGs. Hunter syndrome is one of several related lysosomal storage diseases.
HunterSyndrome.info
This website has been developed as an educational resource for healthcare professionals interested in learning more about Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II).
MPS 1
MPS I stands for Mucopolysacchardosis type I. It is an inherited genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase (IDUA).
MPS Australia
To value, nurture and support those affected by Mucopolysaccharide and related diseases.
MPS Society
The MPS Society provides support to families affected by one of 25 rare, life limiting genetic conditions. We want all affected children and adults to know where to turn for specialist knowledge, support and advice.
National MPS Society
The National MPS Society exists to find cures, support and advocate for MPS and ML.
NORD
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.
ScienceDirect
Mucopolysaccharidosis (MPS) is a group of disorders in which a deficiency of certain lysosomal enzymes normally responsible for the breakdown of glucosaminoglycans results in an accumulation and deposition of undegraded or partially degraded glucosaminoglycans in the lysosomes of many tissues.
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