New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into pr...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Pediatrics (Evanston) 1986-07, Vol.78 (1), p.51-54
Hauptverfasser:	ROSENBLATT, D. S, LAFRAMBOISE, R, PICHETTE, J, LANGEVIN, P, COOPER, B. A, COSTA, T
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - metabolism Aminoacid disorders Biological and medical sciences Errors of metabolism Female Fibroblasts - metabolism Humans Infant, Newborn Malonates - metabolism Malonates - urine Medical sciences Metabolic diseases Metabolism, Inborn Errors - urine Propionates - metabolism Vitamin B 12 - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into protein by whole cells and a decrease of methionine synthase activity in cell extracts. Despite excessive incorporation of [57Co]cyano-B12 by fibroblasts from the patient, free vitamin B12 was unable to efflux from lysosomes, and, therefore, synthesis of both adenosyl-B12 and methyl-B12 was impaired.
ISSN:	0031-4005 1098-4275
DOI:	10.1542/peds.78.1.51