Journal of Inherited Metabolic Disease 1984
Malonyl coenzyme A decarboxylase deficiency.
Μόνο εγγεγραμμένοι χρήστες μπορούν να μεταφράσουν άρθρα
Σύνδεση εγγραφή
Ο σύνδεσμος αποθηκεύεται στο πρόχειρο
Λέξεις-κλειδιά
Αφηρημένη
A patient is described with a deficiency of the mitochondrial enzyme, malonyl CoA decarboxylase - an inborn error of metabolism not recognized previously. The enzyme defect was first suspected because of persistent excretion of malonic and methylmalonic acids in urine in a child with repeated episodes of vomiting, some requiring hospitalization. Disturbances of lipid metabolism were demonstrated.