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3-methylcrotonylglycinurie (aandoening)
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.
Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-coenzyme A carboxylase deficiency
beta-Methylcrotonylglycinuria, type 1
MCC deficiency
BMCC deficiency
3-Methylcrotonyl-CoA carboxylase 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.
Id13144005
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1
CorrelationSNOMED CT source code to target map code correlation not specified