Multiple sulfatase deficiency (MSD), is a lysosomal storage disorder (LSD), that leads to neurological decline and mental retardation, skin abnormalities, and dysmorphism. Based on the age of onset, the disorder or condition can be divided into three subtypes: Neonatal, Late infantile, or juvenile.
Symptoms of Multiple Sulfatase Deficiency (MSD)
- Any person with ichthyosis, coarse facial features, developmental delays, and anomalies of the bones should have MSD suspected. Examination conducted to identify the MSD:
- When a child has elevated sulfatide levels and low levels of at least two sulfatases, MSD can be identified.
- Glycosaminoglycan levels are one additional test that may be helpful, even if they may be normal in certain MSD patients. Molecular genetic testing for SUMF1 gene mutations can also be beneficial; however, due to the disease's rarity, only a small number of disease-causing variants have been thoroughly documented.
Cure for Multiple Sulfatase Deficiency
- Since there are no specific treatments for Multiple Sulfatase Deficiency yet, the primary emphasis is on symptom management.
- A multidisciplinary team must assess the various body systems that could be impacted by MSD as part of the patient's care.
- A thorough approach is advised since clinical disorders span a very wide spectrum.
- Important team members may include neurology and/or metabolism, complex care pediatrics, gastrointestinal, nutrition, urology, orthopedics, and physiatry, depending on the needs of the child.
Late infantile MSD,Mild infantile,Short life expectancy
Slow growth,Progressive loss of mental abilities,Skeletal defect,Coarse facial features,Enlarged organs,Hearing loss