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Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria

  • Metabolic Diseases
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Abstract

We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance.

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Abbreviations

Ado-Cbl:

adenosylcobalamin

Cbl:

cobal-amin

HC:

homocystinuria

HO-Cbl:

hydroxycobalamin

Me-Cbl:

methylcobalamin

MMA:

methylmalonic aciduria

References

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Bellini, C., Cerone, R., Bonacci, W. et al. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. Eur J Pediatr 151, 818–820 (1992). https://doi.org/10.1007/BF01957932

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  • DOI: https://doi.org/10.1007/BF01957932

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