Multiple Sulfatase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
M Health Fairview Explorer Pediatric Specialty Clinic
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Multiple Sulfatase Deficiency. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.
Lars Schlotawa practices practicing medicine in Goettingen, Germany. Mr. Schlotawa is rated as an Elite expert by MediFind in the treatment of Multiple Sulfatase Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Multiple Sulfatase Deficiency, Metachromatic Leukodystrophy, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, CACH Syndrome, and Thrombectomy.
LVPG Family And Internal Medicine-East Stroudsburg
Jonathan Goldner is a primary care provider, practicing in Geriatrics and Internal Medicine in East Stroudsburg, Pennsylvania. Dr. Goldner is rated as an Advanced provider by MediFind in the treatment of Multiple Sulfatase Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Goldner is board certified in American Board Of Internal Medicine - Critical Care Medicine , American Board Of Internal Medicine - Internal Medicine , and American Board Of Internal Medicine - Geriatric Medicine.
Summary: Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with ...
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.
Published Date: May 17, 2021
Published By: National Institutes of Health