Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

doi:10.1007/BF02009662

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Article

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

European journal of pediatrics - 1 Mar 1990

Ribes A, Briones P, Vilaseca M A, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R

Abstract excerpt

A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without su...

Topics

Betaine
Child, Preschool
Female
Homocystinuria
Humans
Infant
Male
Malonates
Metabolism, Inborn Errors
Methylmalonic Acid
Mutation
Vitamin B 12

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