Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
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.
Bellini
C
C
Department of Child Health and Neonatal Medicine, University of Genoa, Italy.
Cerone
R
R
Bonacci
W
W
Caruso
U
U
Magliano
C P
CP
Serra
G
G
Fowler
B
B
Romano
C
C
D000596:Amino Acids / Q000097:blood / Q000652:urine; D005260:Female; D006712:Homocystinuria / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000652:urine; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use*; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D014805:Vitamin B 12 / Q000378:metabolism*
D000596:Amino Acids; D008764:Methylmalonic Acid; D014805:Vitamin B 12; D006879:Hydroxocobalamin