In simple words: MPS I is an inherited condition where the body can't break down certain complex sugars. These sugars build up in different parts of the body, causing various health problems. There are three forms of MPS I: Hurler syndrome (severe), Hurler-Scheie syndrome (intermediate), and Scheie syndrome (mild).

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues, causing a range of symptoms.The three subtypes are Hurler syndrome (most severe), Hurler-Scheie syndrome (intermediate), and Scheie syndrome (mildest), distinguished by age of onset, symptom severity, and intellectual development.

Example 1: A 1-year-old child presents with coarse facial features, developmental delay, and skeletal abnormalities. Enzyme testing reveals a deficiency of alpha-L-iduronidase, confirming Hurler syndrome (MPS I-H)., A 7-year-old child exhibits joint stiffness, corneal clouding, and normal intelligence. Diagnostic tests confirm Hurler-Scheie syndrome (MPS I-H/S)., An adult experiences carpal tunnel syndrome, corneal clouding, and aortic valve disease. Genetic testing reveals a diagnosis of Scheie syndrome (MPS I-S).

Documentation should include clinical findings (e.g., physical exam, developmental milestones), laboratory results (enzyme assays, genetic testing), imaging reports, and specialist consultations.