New PDF release: Advances in Human Genetics 6

By Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 1461582644

ISBN-13: 9781461582649

ISBN-10: 1461582660

ISBN-13: 9781461582663

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9). Subsequently, this group of investigators 3 •4 reported single children with marked central nervous system dysfunction and hyperfolicacidemia who had different, seemingly specific deficiencies in two other enzymatic activities involving folate coenzyme utilization: N5- methyITHF-homocysteine methyltransferase and cyclohydrolase (required for converting N5,NIO- methanylTHF to N 10_ formyITHF). These reports contain no mention of attempted treatment with large amounts of folate. Confirmation of these observations in other laboratories has, thus far, not been reported.

52 These sisters presented at 3 and 5 weeks of age, respectively, with failure to gain weight and infections in addition to their severe anemia, leukopenia, and thrombocytopenia. Serum B12 content was normal. Hematological remission and growth restoration followed parenteral B12 administration, but in this instance only after treatment with 500 ~ of B12 every second day and only as long as these huge doses of B12 were continued. When vitamin supplements were stopped for 6 weeks, hematological relapse occurred but no methylmalonicaciduria or homocystinuria was noted.

Pathway of intracellular cobalamin metabolism. The centered scheme depicts the sequence of enzymatic reactions required for conversion of the vitamin hydroxocobalamin (OH-CBL) to its active coenzymes, 5'deoxyadenosylcobalamin (ADO-CBL) and methylcobalamin (ME-CBL). The broken line leading to ME-CBL reflects uncertainty concerning the point of divergence of its biosynthetic pathway from that leading to ADO-CBL formation. At the top and bottom, the two enzymatic reactions dependent on cobalamin coenzymes are also shown: methylmalonylCoA mutase and N5- methyltetrahydrofolate-homocysteine methyltransferase.

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Advances in Human Genetics 6 by Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn (eds.)


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