Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Störungen des Cobalaminstoffwechsels

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.

Symptome

Anämie
Bei Cobalaminstoffwechselstörungen ist die Anämie makrozytär.

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hyperkatabole Hypoproteinämie
Hyperzinkämie und Hypercalprotectinämie
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Methylmalonazidurie
Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
MTRR
Homozysteinurie und megaloblastäre Anämie cblG
MTR
Klassische Homocysteinurie
CBS
Methylmalonazidurie Typ mut
MUT
Methylmalonazidurie cblA
MMAA
Methylmalonazidurie cblB
MMAB
Methylmalonazidurie mit Homozysteinurie cblC
MMACHC
Methylmalonazidurie mit Homozysteinurie cblD
MMADHC
Methylmalonazidurie mit Homozysteinurie cblF
LMBRD1
Methylmalonazidurie mit Homozysteinurie cblJ
ABCD4
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

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OMIM.ORG article

Omim 251000 [^]
Update: 9. Mai 2019