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
Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA (1988) Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J Pediatr 112:32–39
Bellini C, Cerone R, Santini P, Bonacci W, Caruso U, Serra G, Romano C (1989) A new case of methylmalonic acidemia (MMA) with homocystinuria (HC): preliminary data (abstract). Am J Hum Genet 45, A3
Brandstetter Y, Weinhouse E, Splaingard ML, Tang TT (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). Am J Med Genet 36:167–171
Caruso U, Romano C, Raverdino V (1988) Gas chromatographic/mass spectrometric and gas chromatographic/fourier transform infrared analysis of organic acids: preliminary data. Biomed Environ Mass Spect 16:285–288
Chalmers RA, Lawson AM (1982) Organic acid in man. Chapman and Hall, London
Fenton FE, Rosemberg L (1989) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 2065–2081
Fowler B (1982) Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts. Biochim Biophys Acta 721:201–207
Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK (1988) First trimester diagnosis of methylmalonic aciduria. Prenat Diagn 8:207–213
Mamlok RJ, Isemberg JN, Rassin DK, Norcross K, Tallan HH (1986) A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. Neuropediatrics 17:94–99
Ribes A, Vilaseca MA, Briones P, Maya A, Sabater J (1984) Methylmalonic aciduria with homocystinuria. J Inherited Metab Dis 7 [Suppl] 2:129–130
Ribes A, Briones P, Villaseca MA, Lluch M, Rodes M, Maja A, Campistol J, Pascual P, Suormala T, Baumgartner R (1990) Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. Eur J Pediatr 149:412–415
Zammarchi E, Lippi A, Falorni S, Pasquini E, Cooper BA, Rosenblatt DS (1990) Cbl-C Disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling. Clin Invest Med 13:139–142
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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