Die Cobalamin-Stoffwechselstörungen überlappen mit der Methylmalonazidurie, da der Methylmalonazidurie eine Störung des Cobalamin-Stoffwechsels zugrunde liegt. Es sind autosomal rezessive Stoffwechselerkrankungen bei denen sich neben der erhöhten Konzentration von Methylmalonsäure in Blut und Urin auch megaloblastäre Anämien finden lassen.
Anämie | |
Bei Cobalaminstoffwechselstörungen ist die Anämie makrozytär. |
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34. |
OMIM.ORG article Omim 251000 |