hydroxocobalamin and Nervous-System-Diseases

Topics: Action Potentials; Adult; Anabolic Agents; Androstanes; Attention; Blood Pressure; Cerebral Hemorrhage; Clinical Trials as Topic; Depression, Chemical; Electrocardiography; Electroencephalography; Female; Folic Acid; Heart Rate; Humans; Hydroxocobalamin; Male; Middle Aged; Multiple Sclerosis; Nervous System Diseases; Niacinamide; Placebos; Psychopharmacology; Pyridoxine; Sleep; Vitamin B 12; Vitamin B Complex

The results are presented of a double-blind therapeutic trial of hydroxocobalamin and riboflavine in Nigerian patients suffering from a degenerative neuropathy. Although no benefit from either vitamin was demonstrated, this may reflect the inadequacy of the dosages used. The results are discussed in relation to the hypothesis that dietary cyanide and cyanogens are responsible, at least in part, for the occurrence of this disease in a malnourished population.

Topics: Ataxia; Clinical Trials as Topic; Female; Humans; Hydroxocobalamin; Male; Manihot; Nervous System Diseases; Nigeria; Placebos; Riboflavin; Thiocyanates; Vitamin B 12

Neurological disorders related to vitamin B12 deficiency are common in prisons of tropical Africa. We collected 22 cases (20 men and 2 women). They all showed vitamin B12 deficiency associated with neurological signs that were represented by sclerosis combined with bone marrow (n = 9), peripheral neuropathy (n = 6), cerebellar syndrome (n = 2), a pyramidal syndrome of the lower limbs (n = 4) and optic neuropathy (n = 1). Laboratory tests showed a mean hemoglobin concentration of 7.2 ± 1.5 g/dl, mean 104 ± 28 fl, macrocytic anemia in 10 patients. Biermer's disease was identified in 9 patients, 3 patients showed the syndrome of non dissociation of vitamin B12, a gastrectomy in 2 patients and no etiology was identified in 8 patients.

Topics: Adult; Cohort Studies; Electromyography; Female; Guinea; Humans; Hydroxocobalamin; Magnetic Resonance Imaging; Male; Middle Aged; Nervous System Diseases; Prisons; Vitamin B 12 Deficiency

Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives. We now report the immunologic details of this novel genetic cause of SCID and the response to targeted metabolic supplementation therapies. This finding expands the known metabolic causes of SCID and presents an important diagnostic consideration given the positive impact of therapy.

Topics: 3-Hydroxyacyl CoA Dehydrogenases; Anemia, Megaloblastic; Bone Marrow Examination; Cardiomyopathies; Combined Modality Therapy; DNA Mutational Analysis; Drug Combinations; Drug Therapy, Combination; Exome; Female; Genetic Carrier Screening; Humans; Hydroxocobalamin; Immunization, Passive; Infant; Infant, Newborn; Leukopenia; Lipid Metabolism, Inborn Errors; Methylenetetrahydrofolate Dehydrogenase (NADP); Minor Histocompatibility Antigens; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Nervous System Diseases; Opportunistic Infections; Peripheral Nervous System Diseases; Pneumonia, Pneumocystis; Retinitis Pigmentosa; Rhabdomyolysis; Sequence Analysis, DNA; Severe Combined Immunodeficiency; Sulfadoxine; Trimethoprim; Vitamin B 12

Gross neuropathy consequent upon selective malabsorption of vitamin B12 was diagnosed in a 6 year old Bangladeshi girl brought to Great Britain for further investigation of an unexplained illness of three years' duration. The initial peripheral blood count was normal. Treatment with vitamin B12 has led to substantial recovery.

Topics: Child; Female; Humans; Hydroxocobalamin; Malabsorption Syndromes; Nervous System Diseases; Vitamin B 12 Deficiency

A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the limbs. Following treatment with hydroxocobalamin, his condition has slowly improved but he has remained with a severe neurological deficit. The consequences of vitamin B12 deficiency on neurological development in infancy are discussed.

Topics: Age Factors; Anemia, Macrocytic; Anemia, Megaloblastic; Blood Proteins; Child; Genes, Recessive; Humans; Hydroxocobalamin; Intellectual Disability; Male; Nervous System Diseases; Transcobalamins; Vitamin B 12 Deficiency

Topics: Adult; Aged; Anemia; Brain Diseases; Epilepsy; Facial Paralysis; Fatty Liver; Female; Hemiplegia; Herpes Zoster; Humans; Hydroxocobalamin; Joint Diseases; Male; Middle Aged; Myelitis; Nervous System Diseases; Nutrition Disorders; Optic Neuritis; Polyneuropathies; Psychoses, Alcoholic; Pyridoxine; Sciatica; Thiamine

Topics: Drug Therapy; Humans; Hydroxocobalamin; Nervous System Diseases; Neurology

Topics: Adenosine Triphosphate; Corrinoids; Hematinics; Humans; Hydroxocobalamin; Nervous System Diseases; Thiamine; Vitamin B 12; Vitamins