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Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
Helv Paediatr Acta. 1979; 34(5):483-96.HP

Abstract

Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age. Postmortem analysis of liver obtained 2 weeks after the child was treated with vitamin B12 revealed deficient activity of both cobalamin dependent enzymes: N5-methyltetrahydrofolate: homocysteine methyltransferase (requiring Me-Cbl), and methylmalonyl CoA mutase (requiring Ado-Cbl). MMA-CoA mutase activity could be restored to normal in vitro by added Ado-Cbl, but MeTHF-HCy transferase activity was not significantly enhanced by addition of Me-Cbl. Though the serum total cobalamin was normal, total cobalamin in liver and kidney was abnormally low. In the kidney Me-Cbl and Ado-Cbl were disproportionally decreased whereas in the liver only Ado-Cbl was significantly reduced. This suggests that at least some of the CN-Cbl administered was converted to the coenzymes in liver which would explain the reduction of MMA- and HCy-excretion during therapy. The results show 1. that this infant suffered from a congenital defect in one of the steps of intracellular cobalamin metabolism or transport common to the synthesis of both coenzymes, 2. that life-long treatment with vitamin B12 (OH-Cbl) may be of value in similar cases, particularly if given early in the course of the disease.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

43301

Citation

Baumgartner, E R., et al. "Congenital Defect in Intracellular Cobalamin Metabolism Resulting in Homocystinuria and Methylmalonic Aciduria. II. Biochemical Investigations." Helvetica Paediatrica Acta, vol. 34, no. 5, 1979, pp. 483-96.
Baumgartner ER, Wick H, Linnell JC, et al. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. Helv Paediatr Acta. 1979;34(5):483-96.
Baumgartner, E. R., Wick, H., Linnell, J. C., Gaull, G. E., Bachmann, C., & Steinmann, B. (1979). Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. Helvetica Paediatrica Acta, 34(5), 483-96.
Baumgartner ER, et al. Congenital Defect in Intracellular Cobalamin Metabolism Resulting in Homocystinuria and Methylmalonic Aciduria. II. Biochemical Investigations. Helv Paediatr Acta. 1979;34(5):483-96. PubMed PMID: 43301.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. AU - Baumgartner,E R, AU - Wick,H, AU - Linnell,J C, AU - Gaull,G E, AU - Bachmann,C, AU - Steinmann,B, PY - 1979/1/1/pubmed PY - 1979/1/1/medline PY - 1979/1/1/entrez SP - 483 EP - 96 JF - Helvetica paediatrica acta JO - Helv Paediatr Acta VL - 34 IS - 5 N2 - Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age. Postmortem analysis of liver obtained 2 weeks after the child was treated with vitamin B12 revealed deficient activity of both cobalamin dependent enzymes: N5-methyltetrahydrofolate: homocysteine methyltransferase (requiring Me-Cbl), and methylmalonyl CoA mutase (requiring Ado-Cbl). MMA-CoA mutase activity could be restored to normal in vitro by added Ado-Cbl, but MeTHF-HCy transferase activity was not significantly enhanced by addition of Me-Cbl. Though the serum total cobalamin was normal, total cobalamin in liver and kidney was abnormally low. In the kidney Me-Cbl and Ado-Cbl were disproportionally decreased whereas in the liver only Ado-Cbl was significantly reduced. This suggests that at least some of the CN-Cbl administered was converted to the coenzymes in liver which would explain the reduction of MMA- and HCy-excretion during therapy. The results show 1. that this infant suffered from a congenital defect in one of the steps of intracellular cobalamin metabolism or transport common to the synthesis of both coenzymes, 2. that life-long treatment with vitamin B12 (OH-Cbl) may be of value in similar cases, particularly if given early in the course of the disease. SN - 0018-022X UR - https://www.unboundmedicine.com/medline/citation/43301/Congenital_defect_in_intracellular_cobalamin_metabolism_resulting_in_homocystinuria_and_methylmalonic_aciduria__II__Biochemical_investigations_ L2 - https://www.diseaseinfosearch.org/result/3460 DB - PRIME DP - Unbound Medicine ER -