Learn About Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
Variants (also known as mutations) in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose.
Beta-mannosidosis is believed to be a very rare disorder. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
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Julie Biller is a Pulmonary Medicine specialist and a Pediatric Pulmonologist in Milwaukee, Wisconsin. Dr. Biller is rated as an Advanced provider by MediFind in the treatment of Beta-Mannosidosis. Her top areas of expertise are Cystic Fibrosis, Secondary Immunodeficiency (SID), Newborn Jaundice, and Lung Metastases. Dr. Biller is currently accepting new patients.
MN - Neuro Pediatric
Deborah Renaud is a Pediatric Neurologist in Rochester, Minnesota. Dr. Renaud is rated as a Distinguished provider by MediFind in the treatment of Beta-Mannosidosis. Her top areas of expertise are Beta-Mannosidosis, Leukodystrophy, CACH Syndrome, and Alpha Mannosidosis.
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Juan Fernandez is a Nephrologist in Miami, Florida. Dr. Fernandez is rated as a Distinguished provider by MediFind in the treatment of Beta-Mannosidosis. His top areas of expertise are Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, and Gastrostomy.
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.
Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...
Published Date: February 01, 2023
Published By: National Institutes of Health