Homocystinuria with methylmalonic aciduria: two cases in a sibship.

@article{Goodman1970HomocystinuriaWM,
  title={Homocystinuria with methylmalonic aciduria: two cases in a sibship.},
  author={S. Goodman and P. Moe and K. Hammond and S. Mudd and B. Uhlendorf},
  journal={Biochemical medicine},
  year={1970},
  volume={4 5},
  pages={
          500-15
        }
}
Abstract The clinical and biochemical findings in two brothers each of whom has homocystinuria and methylmalonic aciduria are described. Studies of fibroblasts grown from skin biopsies of these patients demonstrated that their homocystinuria is due to decreased activity of N5-methyltetra-hydrofolate methyltransferase, rather than due to decreased activity of cystathionine synthase. These siblings are the second and third reported cases of homocystinuria due to a defect in homocysteine… Expand
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
TLDR
Therapy consisting of folic acid, vitamin B6, l-carnitine and intramuscular vitamin B12 resulted in a clear improvement of biochemical parameters and, importantly, resulted in amelioration of the Marfanoid features in the girl. Expand
Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient
TLDR
Results of biochemical studies in cultured fibroblasts paralleled those described for other Cbl-C patients except that methylmalonyl-coenzyme A mutase activity in disrupted fibro Blasts was in the normal range. Expand
MENTAL RETARDATION, MEGALOBLASTIC ANAEMIA, METHYLMALONIC ACIDURIA A N D ABNORMAL HOMOCYSTEINE METABOLISM DUE TO A N ERROR
1. The case is described of a child with retarded physical and mental development, recurrent megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism resulting from anExpand
Methylmalonic aciduria with homocystinuria.
TLDR
A possible new case of the Cbl C type is described and the clinical and biochemical evolution in parallel with the treatment and protein intake is presented. Expand
Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.
TLDR
A variety of evidence indicates that patients with this type of homocystinuria are not deficient in cystathionine synthase activity, and a deficiency of this reductase activity can explain the biochemical abnormalities in these patients. Expand
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
TLDR
An inborn error of vitamin B12 metabolism in an infant who had severe developmental delay, megaloblastic anemia, and homocystinuria is described and treatment with hydroxocobalamin and folic acid resulted in rapid clinical and biochemical improvement. Expand
Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.
TLDR
A child with retarded physical and mental development, recurrent megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism resulting from an inborn error in the metabolism of cobalamins died at the age of 7 years. Expand
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
TLDR
The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of theMMADHC protein are associated with methylmalonic aciduria, and mutations affect the C terminus areassociated with homocystinuria. Expand
Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
TLDR
There was a moderate response in cultured cells to large amounts of added hydroxycobalamin; but treatment of the patient with high doses of intramuscular vitamin B12 for ten days failed to lower the urinary excretion of methylmalonic acid. Expand
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation
TLDR
The patient with severe anaemia, hyperbilirubinaemia and hypotonicity was affected by both glycogen storage disease type II and cblC disease, and the remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents. Expand
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TLDR
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TLDR
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