Μεθυλμαλονική Acidemia
Αυτοσωμικός υπολειπόμενος
Προκαλείται από παραλλαγές στα MMUT, MMAA, MMAB, MCEE και σε συναφή γονίδια επεξεργασίας κοβαλαμίνης, οι οποίες μπορεί να προκαλέσουν εμέτους, κακή σίτιση, μεταβολικές κρίσεις, αναπτυξιακά προβλήματα και νεφρική νόσο.
Τι αλλάζει με τη διάγνωση
Η γνώση επιτρέπει εξειδικευμένη διαιτητική διαχείριση, χορήγηση καρνιτίνης, βιταμίνης B12 για τις μορφές που ανταποκρίνονται και σχέδιο έκτακτης ανάγκης, γεγονός που μειώνει τον κίνδυνο κρίσεων.
Γνωστή επίσης ως
methylmalonic acidemia, cblA type; methylmalonic acidemia, cblB type; methylmalonic aciduria; methylmalonic aciduria cblB type; methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; methylmalonic aciduria type cblA; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type; METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A; METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B
Περιλαμβάνει 18 συναφείς υποτύπους ↓Απόκρυψη υποτύπων ↑
- combined malonic and methylmalonic acidemia
- isolated methylmalonic aciduria cblD type
- methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- methylmalonic acidemia due to transcobalamin receptor defect
- methylmalonic acidemia with homocystinuria, type cblJ
- methylmalonic acidemia with homocystinuria, type cblX
- methylmalonic aciduria and homocystinuria
- methylmalonic aciduria and homocystinuria type cblC
- methylmalonic aciduria and homocystinuria type cblD
- methylmalonic aciduria and homocystinuria type cblF
- methylmalonic aciduria and homocystinuria, cb1L type
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- methylmalonic aciduria, cblA type
- methylmalonic aciduria, cblB type
- vitamin B12-responsive methylmalonic acidemia
- vitamin B12-responsive methylmalonic acidemia, type cblDv2
- vitamin B12-unresponsive methylmalonic acidemia type mut-
- vitamin B12-unresponsive methylmalonic acidemia type mut0
