ISSN:
1432-1076
Keywords:
Methylmalonic aciduria
;
Homocystinuria
;
Biochemical diagnosis
;
Treatment
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01957932
Permalink