Mucopolysaccharidosis Plus Syndrome (MPSPS) is a rare condition related to conventional Mucopolysaccharidoses (MPS) but distinguished by additional features affecting various organ systems. These features include congenital heart defects, renal disorders, and hematopoietic disorders. MPSPS was first described in 2014 by Dr. Gurinova.
Key Characteristics of MPS Plus Syndrome
- Beyond Typical MPS Symptoms: Individuals with MPSPS exhibit symptoms common to standard MPS disorders.
- Congenital Heart Defects: Heart abnormalities present from birth.
- Renal Disorders: Problems affecting the kidneys.
- Hematopoietic Disorders: Issues related to blood cell production and the bone marrow.
MPS vs. MPS Plus Syndrome
| Feature | Mucopolysaccharidosis (MPS) | Mucopolysaccharidosis Plus Syndrome (MPSPS) |
|---|---|---|
| Core Symptoms | Typical MPS features | Typical MPS features plus the following |
| Congenital Heart Defects | Absent | Present |
| Renal Disorders | Absent | Present |
| Hematopoietic Disorders | Absent | Present |
Diagnosis and Identification
Identification of MPS Plus Syndrome requires careful clinical evaluation to distinguish it from other MPS disorders and conditions with similar symptoms. The recognition of the unique features in MPSPS is based on the work of Dr. Gurinova.
