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

C. Bellini, R. Cerone, W. Bonacci, U. Caruso, C. P. Magliano, G. Serra, B. Fowler, C. Romano

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)818-820
Number of pages3
JournalEuropean Journal of Pediatrics
Volume151
Issue number11
DOIs
Publication statusPublished - Nov 1992

Keywords

  • Biochemical diagnosis
  • Homocystinuria
  • Methylmalonic aciduria
  • Treatment

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria'. Together they form a unique fingerprint.

  • Cite this