Transcobalamin DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Transcobalamin Deficiency
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is found in animal products such as meat, eggs, and shellfish. An inability to transport cobalamin within the body results in cells that lack cobalamin, which they need for many functions including cell growth and division (proliferation) and DNA production. The absence of cobalamin leads to impaired growth, a shortage of blood cells, and many other signs and symptoms that usually become apparent within the first weeks or months of life.
Mutations in the TCN2 gene cause transcobalamin deficiency. The TCN2 gene provides instructions for making a protein called transcobalamin. This protein attaches (binds) to cobalamin and transports the vitamin to cells throughout the body. Within cells, cobalamin helps certain enzymes carry out chemical reactions. Cobalamin plays a role in the processes that produce the building blocks of DNA (nucleotides) and break down various compounds such as fatty acids; these processes are needed for cell proliferation and the production of cellular energy.
The prevalence of transcobalamin deficiency is unknown. At least 45 affected individuals have been described in the medical 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.
Bassett Prime Care Cooperstown
Maria Camargo is a primary care provider, practicing in Internal Medicine in Cooperstown, New York. Dr. Camargo is rated as an Experienced provider by MediFind in the treatment of Transcobalamin Deficiency. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Peripheral Neuropathy, Ringworm, Acute Interstitial Pneumonia, Endoscopy, and Ureteroscopy. Dr. Camargo is board certified in American Board Of Internal Medicine, American Board Of Geriatrics, and American Board Of Hospice And Palliative Care.
Farzana Aziz is a primary care provider, practicing in Hospital Medicine in Richmond Hills, New York. Dr. Aziz is rated as a Distinguished provider by MediFind in the treatment of Transcobalamin Deficiency. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Transcobalamin Deficiency, Vitamin B12 Deficiency, Vitamin D Deficiency, and Silent Thyroiditis.
Nabil Keith, MD
Nabil Keith is a primary care provider, practicing in Family Medicine in Dawsonville, Georgia. Dr. Keith is rated as an Advanced provider by MediFind in the treatment of Transcobalamin Deficiency. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Bronchitis, Transcobalamin Deficiency, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Keith is board certified in American Board Of Family Medicine. Dr. Keith is currently accepting new patients.
Published Date: October 01, 2014
Published By: National Institutes of Health