Multiple Sulfatase DeficiencySymptoms, Doctors, Treatments, Advances & More
Multiple Sulfatase Deficiency Overview
Learn About Multiple Sulfatase Deficiency
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.
Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones.
Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. More than 140 cases have been reported in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Lars Schlotawa practices in Goettingen, Germany. Mr. Schlotawa is rated as an Elite expert by MediFind in the treatment of Multiple Sulfatase Deficiency. His top areas of expertise are Multiple Sulfatase Deficiency, Metachromatic Leukodystrophy, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, CACH Syndrome, and Thrombectomy.
Children's Hospital Of Philadelphia
Rebecca Ahrens is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ahrens is rated as an Elite provider by MediFind in the treatment of Multiple Sulfatase Deficiency. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Multiple Sulfatase Deficiency. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
Summary: The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: May 17, 2021
Published By: National Institutes of Health