Search Results - cobalamin

3 Results

Sort By:

High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders

Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...

Published: 10/28/2024 | Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti

Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental

Gene Therapy for Cobalamin C Deficiency (cblC) with Viable Mouse Models

Cobalamin C deficiency (cblC) is the most common inborn error of intracellular cobalamin metabolism and is caused by mutations in MMACHC, a gene responsible for processing and trafficking dependent enzymes: intracellular cobalamin, resulting in elevated methylmalonic acid and homocysteine and methionine deficiency. Disease manifestations include growth...

Published: 10/28/2024 | Inventor(s): Jennifer Sloan, Charles Venditti

Keywords(s): C, cblC, Cobalamin, DEFICIENCY, Gene, THERAPY, VDXXXX, VEXXXX, VPXXXX, WIXXXX, WJXXXX, XEXXXX

Category(s): TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Neurology, TherapeuticArea > Infectious Disease, Application > Research Materials

Mouse Model of Cobalamin A (cblA) Class Isolated Methylmalonic Acidemia (MMA) to Study New Therapies

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease characterized by metabolic instability, chronic renal disease, and neurological complications. Patients with the cobalamin A (cblA) subtype of MMA can have variable...

Published: 10/28/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Acidemia, cblA, Class, Cobalamin, ISOLATED, Methylmalonic, MMA, Model, Mouse, VEXXXX, VPXXXX, WKXXXX, XCXXXX

Category(s): TherapeuticArea > Oncology, TherapeuticArea > Neurology, TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Infectious Disease, Application > Research Materials, Application > Diagnostics