| Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) |
| Methylcrotonyl-CoA carboxylase deficiency |
| 3-Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-coenzyme A carboxylase deficiency
beta-Methylcrotonylglycinuria, type 1
MCC deficiency
BMCC deficiency
|
| An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively. |
| 3-methylcrotonylglycinurie |
| 3-methylcrotonyl-CoA-carboxylasedeficiëntie
|
| 3-MCC-deficiëntie |
| 3-methylcrotonyl-CoA-carboxylasedeficiëntie
|
| Dit is een erfelijke stofwisselingsziekte waarbij het aminozuur leucine niet goed wordt afgebroken. Dit kan leiden tot hersenbeschadiging, epilepsie en een ontwikkelingsachterstand. De ziekte is goed behandelbaar. |
