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

doi:10.1007/BF01957932

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

Eur J Pediatr. 1992 Nov;151(11):818-20. doi: 10.1007/BF01957932.

Authors

C Bellini¹, R Cerone, W Bonacci, U Caruso, C P Magliano, G Serra, B Fowler, C Romano

Affiliation

¹ Department of Child Health and Neonatal Medicine, University of Genoa, Italy.

PMID: 1468456
DOI: 10.1007/BF01957932

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.

Publication types

Case Reports

MeSH terms

Amino Acids / blood
Amino Acids / urine
Female
Homocystinuria / blood
Homocystinuria / complications
Homocystinuria / diagnosis
Homocystinuria / drug therapy*
Homocystinuria / urine
Humans
Hydroxocobalamin / therapeutic use*
Infant, Newborn
Metabolism, Inborn Errors / blood
Metabolism, Inborn Errors / complications
Metabolism, Inborn Errors / diagnosis
Metabolism, Inborn Errors / drug therapy*
Metabolism, Inborn Errors / urine
Methylmalonic Acid / urine*
Vitamin B 12 / metabolism*

Substances

Amino Acids
Methylmalonic Acid
Vitamin B 12
Hydroxocobalamin