Krankheit

Methylmalonazidurie - Homocystinurie Typ cbl C

Methylmalonic aciduria and homocystinuria cblC type

OMIM: 277400

Synonyme

  • Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblC
  • Methylmalonazidämie - Homocystinurie Typ cbl C
  • METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA
  • cblC TYPE
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
  • VITAMIN B12-RESPONSIVE
  • VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLAT

Gen locations