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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Watkins, David Rosenblatt, David S. |
| Description | Country affiliation: Canada Author Affiliation: Watkins D ( Department of Human Genetics, McGill University, Canada. david.watkins@mcgill.ca) |
| Abstract | Derivatives of cobalamin (vitamin B(12)) are required for activity of two enzymes in humans. Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and methylcobalamin is required for activity of cytoplasmic methionine synthase. Deficiency in cobalamin, or inability to absorb cobalamin normally, can result in accumulation of methylmalonic acid and homocysteine in blood and urine. Methylmalonic acidemia can result in metabolic acidosis which in severe cases may be fatal. Hyperhomocysteinemia along with hypomethioninemia can result in hematologic (megaloblastic anemia, neutropenia, thrombocytopenia) and neurologic (subacute combined degeneration of the cord, dementia, psychosis) defects. Inborn errors affecting cobalamin absorption (inherited intrinsic factor deficiency, ImerslundGra¨ sbeck syndrome) and transport (transcobalamin deficiency) have been described. A series of inborn errors of intracellular cobalamin metabolism, designated cblA-cblG, have been differentiated by complementation analysis. These can give rise to isolated methylmalonic acidemia (cblA, cblB, cblD variant 2), isolated hyperhomocysteinemia (cblD variant 1, cblE, cblG) or combined methylmalonic acidemia and hyperhomocysteinemia (cblC, classic cblD, cblF). All these disorders are inherited as autosomal recessive traits. The genes underlying each of these disorders have been identified. Two other disorders, haptocorrin deficiency and transcobalamin receptor deficiency, have been described, but it is not clear that they have any consistent clinical phenotype. |
| File Format | HTM / HTML |
| ISSN | 15524868 |
| Issue Number | 1 |
| Volume Number | 157C |
| e-ISSN | 15524876 |
| Journal | American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
| Language | English |
| Publisher | Wiley |
| Publisher Date | 2011-02-15 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Genetics Discipline Medical Vitamin B 12 Deficiency Diagnosis Genetics Vitamin B 12 Metabolism Amino Acid Metabolism, Inborn Errors Anemia, Megaloblastic Cobamides Homocysteine Blood Urine Humans Hyperhomocysteinemia Infant, Newborn Malabsorption Syndromes Metabolism, Inborn Errors Methylmalonic Acid Methylmalonyl-coa Mutase Deficiency Neonatal Screening Proteinuria Analogs & Derivatives Journal Article |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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