Inborn Errors of Cobalamin (Vitamin B12) Metabolism

1990 ◽  
pp. 607-621
Author(s):  
R. A. H. Surtees ◽  
J. V. Leonard
Keyword(s):  
Vitamin B12 ◽  
Inborn Errors

scholarly journals Current Nanocarrier Strategies Improve Vitamin B12 Pharmacokinetics, Ameliorate Patients’ Lives, and Reduce Costs

Nanomaterials ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 743
Author(s):  
Marco Fidaleo ◽  
Stefano Tacconi ◽  
Carolina Sbarigia ◽  
Daniele Passeri ◽  
Marco Rossi ◽  
...  
Keyword(s):  
Side Effects ◽  
Vitamin B12 ◽  
Memory Performance ◽  
Oral Route ◽  
High Dose ◽  
Human Beings ◽  
Inborn Errors ◽  
Essential Nutrient

Vitamin B12 (VitB12) is a naturally occurring compound produced by microorganisms and an essential nutrient for humans. Several papers highlight the role of VitB12 deficiency in bone and heart health, depression, memory performance, fertility, embryo development, and cancer, while VitB12 treatment is crucial for survival in inborn errors of VitB12 metabolism. VitB12 is administrated through intramuscular injection, thus impacting the patients’ lifestyle, although it is known that oral administration may meet the specific requirement even in the case of malabsorption. Furthermore, the high-dose injection of VitB12 does not ensure a constant dosage, while the oral route allows only 1.2% of the vitamin to be absorbed in human beings. Nanocarriers are promising nanotechnology that can enable therapies to be improved, reducing side effects. Today, nanocarrier strategies applied at VitB12 delivery are at the initial phase and aim to simplify administration, reduce costs, improve pharmacokinetics, and ameliorate the quality of patients’ lives. The safety of nanotechnologies is still under investigation and few treatments involving nanocarriers have been approved, so far. Here, we highlight the role of VitB12 in human metabolism and diseases, and the issues linked to its molecule properties, and discuss how nanocarriers can improve the therapy and supplementation of the vitamin and reduce possible side effects and limits.

METHYLMALONIC ACID

PEDIATRICS ◽  
1973 ◽  
Vol 51 (6) ◽  
pp. 1012-1015
Author(s):  
Lewis A. Barness
Keyword(s):  
Vitamin B12 ◽  
Inborn Errors Of Metabolism ◽  
Methylmalonic Acid ◽  
Methylmalonic Aciduria ◽  
Organic Aciduria ◽  
Combined System ◽  
Inborn Errors ◽  
System Disease ◽  
Amino Aciduria

Methylmalonate studies have led to some understanding of vitamin B12 metabolism as well as certain inborn errors of metabolism. These, in turn, have served as models of a group of diseases related to acidosis, so that the study of organic aciduria at present is similar to that of amino aciduria 20 years ago. Techniques for studying these have been developed. Many unanswered questions remain. (1) What does methylmalonate do? Does it, itself, cause the acidosis? Does it cause a deficiency of succinate in the oxidative cycle? (2) Are more direct ways of increasing succinate available? (3) What is the relation of methylmalonate to combined system disease or vitamin B12 neuropathy? (4) Are enzymes defective or absent? (5) What is the significance of methylmalonate in the newborn? (6) How does one counsel or treat families which include members with methylmalonic aciduria?

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

2005 ◽  
Vol 86 (1-2) ◽  
pp. 160-171 ◽  
Author(s):  
Chantal F. Morel ◽  
David Watkins ◽  
Patrick Scott ◽  
Piero Rinaldo ◽  
David S. Rosenblatt
Keyword(s):  
Prenatal Diagnosis ◽  
Vitamin B12 ◽  
Methylmalonic Acidemia ◽  
Inborn Errors

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B12 absorption?

2012 ◽  
Vol 107 (1-2) ◽  
pp. 66-71 ◽  
Author(s):  
Amina Boina Abdallah ◽  
Hélène Ogier de Baulny ◽  
Renata Kozyraki ◽  
Sandrine Passemard ◽  
Odile Fenneteau ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Term Therapy ◽  
Inborn Errors ◽  
Vitamin B12 Absorption ◽  
Long Term Therapy

Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment

2021 ◽  
Author(s):  
Piero Pavone ◽  
Federica Sullo ◽  
Raffaele Falsaperla ◽  
Filippo Greco ◽  
Agustina Crespo ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Late Onset ◽  
Vitamin B12 Deficiency ◽  
West Syndrome ◽  
Water Soluble ◽  
Vegan Diet ◽  
Inborn Errors ◽  
Water Soluble Vitamin ◽  
B12 Deficiency ◽  
Somatic Diseases

AbstractVitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome developed during treatment with vitamin B12 and normalization of the vitamin B12 level. Early treatment and replacement therapy are worthwhile to prevent serious neurological problems and to improve the patient's clinical course.

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism

2007 ◽  
Vol 90 (2) ◽  
pp. 140-147 ◽  
Author(s):  
E. Moras ◽  
A. Hosack ◽  
D. Watkins ◽  
D.S. Rosenblatt
Keyword(s):  
Vitamin B12 ◽  
Binding Proteins ◽  
Inborn Errors ◽  
Cobalamin Metabolism

Lessons in biology from patients with inborn errors of vitamin B12 metabolism

Biochimie ◽  
2013 ◽  
Vol 95 (5) ◽  
pp. 1019-1022 ◽  
Author(s):  
David Watkins ◽  
David S. Rosenblatt
Keyword(s):  
Vitamin B12 ◽  
Inborn Errors

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism

2008 ◽  
Vol 95 (1-2) ◽  
pp. 104-106 ◽  
Author(s):  
Lama Yamani ◽  
Bernard F. Gibbs ◽  
Brian M. Gilfix ◽  
David Watkins ◽  
Angela Hosack ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Inborn Errors ◽  
Cultured Fibroblasts

scholarly journals Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder

2020 ◽  
Vol 9 (4) ◽  
pp. 990
Author(s):  
Javier De Las Heras ◽  
Ibai Diez ◽  
Antonio Jimenez-Marin ◽  
Alberto Cabrera ◽  
Daniela Ramos-Usuga ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Late Onset ◽  
Ventricular Volume ◽  
Methylmalonic Aciduria ◽  
Cognitive Disability ◽  
Clinical Genetic ◽  
Inborn Errors ◽  
Motor Tracts ◽  
Brain Circuit ◽  
Cobalamin Metabolism

Neuroimaging studies describing brain circuits’ alterations in cobalamin (vitamin B12)-deficient patients are limited and have not been carried out in patients with inborn errors of cobalamin metabolism. The objective of this study was to assess brain functionality and brain circuit alterations in a patient with an ultra-rare inborn error of cobalamin metabolism, methylmalonic aciduria, and homocystinuria due to cobalamin D disease, as compared with his twin sister as a healthy control (HC). We acquired magnetic resonance imaging (including structural, functional, and diffusion images) to calculate brain circuit abnormalities and combined these results with the scores after a comprehensive neuropsychological evaluation. As compared with HC, the patient had severe patterns of damage, such as a 254% increment of ventricular volume, pronounced subcortical and cortical atrophies (mainly at striatum, cingulate cortex, and precuneus), and connectivity alterations at fronto-striato-thalamic circuit, cerebellum, and corpus callosum. In agreement with brain circuit alterations, cognitive deficits existed in attention, executive function, inhibitory control, and mental flexibility. This is the first study that provides the clinical, genetic, neuroanatomical, neuropsychological, and psychosocial characterization of a patient with the cobalamin D disorder, showing functional alterations in central nervous system motor tracts, thalamus, cerebellum, and basal ganglia, that, as far as we know, have not been reported yet in vitamin B12-related disorders.

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

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