Sord deficiency. Learn more on the CMTA website.

Sord deficiency. People with SORD Deficiency are missing a key enzyme needed to process a substance called sorbitol. Screening for sorbitol dehydrogenase deficiency-related neuropathy Jul 4, 2024 · Therapies Needed SORD deficiency is a progressive, debilitating, hereditary neuropathy with an average age of onset of 17 years. Loss of SORD causes high sorbitol levels in tissues due to the inability to convert sorbitol to fructose in the Oct 2, 2023 · SORD Deficiency is a rare genetic disorder that affects the body’s ability to metabolize sorbitol, a sugar alcohol commonly found in fruit and other foods. Learn more here. 3 Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. SORD Deficiency patients are missing a key enzyme needed to metabolize a sugar called sorbitol. 4 Without this necessary enzyme, sorbitol builds up and is toxic. 1 Neuronopathy, distal hereditary motor, autosomal recessive 8 618912 AR 3 SORD 182500 Clinical People with SORD Deficiency are missing a key enzyme needed to process a substance called sorbitol. It’s progressive and debilitating affecting the peripheral nerves and motor neurons resulting in loss of sensory and decreased mobility. This rare disease is caused by mutations in the SORD gene, that is involved in the synthesis of sorbitol dehydrogenase. SORD Deficiency is primarily characterized by axonal damage to peripheral nerves. These can include neurological problems, muscle weakness You may qualify to get tested for SORD Deficiency at no cost and find out if you can participate in a new clinical trial in SORD Deficiency. Eligibility requirements for the blood test include: 16–55 years of age with a clinical diagnosis of a hereditary . Learn more on the CMTA website. 2. Oct 9, 2022 · SORD is a genetic metabolic disease resulting in CMT neuropathy. 3 Sorbitol is a sugar created in the body. It is estimated to affect approximately 3000 people in the United Feb 16, 2024 · Sorbitol dehydrogenase deficiency (SORD Deficiency) is a progressive, debilitating hereditary neuropathy that affects peripheral nerves and motor neurons, resulting in significant disability, loss of sensory function and decreased mobility. SORD Deficiency Disorder, a rare CMT subtype, affects the body’s ability to process a specific sugar molecule called sorbitol. SORD-Deficiency: Decoding This Newly Discovered CMT Subtype explores what makes SORD-Deficiency CMT so different from every other CMT subtype, and discusses why SORD-Deficiency is CMT. Nov 2, 2022 · Aptly named SORD-Deficiency, this subtype has a unique feature not seen elsewhere in CMT. This results in significant weakness and disability. Understand more about symptoms, who's at risk and treatment options. The buildup of sorbitol leads to a wide range of symptoms. 3. 3 Feb 6, 2023 · SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD SORBITOL DEHYDROGENASE DEFICIENCY Phenotype-Gene Relationships Location Phenotype Phenotype MIM number Inheritance Phenotype mapping key Gene/Locus Gene/Locus MIM number 15q21. A nurse will visit your home to draw a blood sample — it only takes a few minutes, and you will receive your results within a few weeks. Oct 30, 2024 · SORD (sorbitol dehydrogenase) Deficiency is a progressive hereditary neuropathy that affects peripheral nerves and motor neurons, resulting in loss of sensory function and decreased mobility.