Transcobalamin II deficiency with methylmalonic aciduria in three sisters
Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor‐mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1999-10, Vol.22 (7), p.765-772 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Bibi, H. Gelman‐Kohan, Z. Baumgartner, E. R. Rosenblatt, D. S. |
| description | Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor‐mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied by neurological abnormalities. Inadequate treatment may lead to neurological abnormalities. We describe three sisters, the daughters of first cousins of Moroccan origin, with TC II deficiency requiring continuous and long‐term vitamin B12 treatment. The diagnosis was suspected from the finding of low unsaturated vitamin B12 binding capacity and confirmed by absence of detectable TC II by radioimmunoassay and by inability of cultured fibroblasts to synthesize TC II. |
| doi_str_mv | 10.1023/A:1005507204491 |
| format | Article |
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The diagnosis was suspected from the finding of low unsaturated vitamin B12 binding capacity and confirmed by absence of detectable TC II by radioimmunoassay and by inability of cultured fibroblasts to synthesize TC II.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1023/A:1005507204491</identifier><identifier>PMID: 10518276</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Biological and medical sciences ; Cells, Cultured ; Errors of metabolism ; Female ; Fibroblasts - cytology ; Fibroblasts - metabolism ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Ketosis - drug therapy ; Ketosis - physiopathology ; Ketosis - urine ; Medical sciences ; Metabolic diseases ; Metabolism, Inborn Errors - drug therapy ; Metabolism, Inborn Errors - metabolism ; Metabolism, Inborn Errors - physiopathology ; Metabolism, Inborn Errors - urine ; Methylmalonic Acid - urine ; Miscellaneous hereditary metabolic disorders ; Propionates - metabolism ; Transcobalamins - deficiency ; Treatment Outcome ; Vitamin B 12 - metabolism ; Vitamin B 12 - therapeutic use ; Vitamin B 12 Deficiency - drug therapy ; Vitamin B 12 Deficiency - physiopathology ; Vitamin B 12 Deficiency - urine</subject><ispartof>Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.765-772</ispartof><rights>1999 SSIEM</rights><rights>1999 INIST-CNRS</rights><rights>Copyright Kluwer Academic Publishers Oct 1999</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3955-9f25fa829da1492720763d0c873b25555eae67141c57b04a601361c3c25491ca3</citedby><cites>FETCH-LOGICAL-c3955-9f25fa829da1492720763d0c873b25555eae67141c57b04a601361c3c25491ca3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1023%2FA%3A1005507204491$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1023%2FA%3A1005507204491$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27933,27934,45583,45584</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1972041$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10518276$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bibi, H.</creatorcontrib><creatorcontrib>Gelman‐Kohan, Z.</creatorcontrib><creatorcontrib>Baumgartner, E. R.</creatorcontrib><creatorcontrib>Rosenblatt, D. S.</creatorcontrib><title>Transcobalamin II deficiency with methylmalonic aciduria in three sisters</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor‐mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied by neurological abnormalities. Inadequate treatment may lead to neurological abnormalities. We describe three sisters, the daughters of first cousins of Moroccan origin, with TC II deficiency requiring continuous and long‐term vitamin B12 treatment. 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S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3955-9f25fa829da1492720763d0c873b25555eae67141c57b04a601361c3c25491ca3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Fibroblasts - cytology</topic><topic>Fibroblasts - metabolism</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Ketosis - drug therapy</topic><topic>Ketosis - physiopathology</topic><topic>Ketosis - urine</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - drug therapy</topic><topic>Metabolism, Inborn Errors - metabolism</topic><topic>Metabolism, Inborn Errors - physiopathology</topic><topic>Metabolism, Inborn Errors - urine</topic><topic>Methylmalonic Acid - urine</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Propionates - metabolism</topic><topic>Transcobalamins - deficiency</topic><topic>Treatment Outcome</topic><topic>Vitamin B 12 - metabolism</topic><topic>Vitamin B 12 - therapeutic use</topic><topic>Vitamin B 12 Deficiency - drug therapy</topic><topic>Vitamin B 12 Deficiency - physiopathology</topic><topic>Vitamin B 12 Deficiency - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bibi, H.</creatorcontrib><creatorcontrib>Gelman‐Kohan, Z.</creatorcontrib><creatorcontrib>Baumgartner, E. 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| subjects | Biological and medical sciences Cells, Cultured Errors of metabolism Female Fibroblasts - cytology Fibroblasts - metabolism Follow-Up Studies Humans Infant Infant, Newborn Ketosis - drug therapy Ketosis - physiopathology Ketosis - urine Medical sciences Metabolic diseases Metabolism, Inborn Errors - drug therapy Metabolism, Inborn Errors - metabolism Metabolism, Inborn Errors - physiopathology Metabolism, Inborn Errors - urine Methylmalonic Acid - urine Miscellaneous hereditary metabolic disorders Propionates - metabolism Transcobalamins - deficiency Treatment Outcome Vitamin B 12 - metabolism Vitamin B 12 - therapeutic use Vitamin B 12 Deficiency - drug therapy Vitamin B 12 Deficiency - physiopathology Vitamin B 12 Deficiency - urine |
| title | Transcobalamin II deficiency with methylmalonic aciduria in three sisters |
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