| 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 | | 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. |
| | Id | 13144005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.2 | | Term | Stofwisselingsstoornis van aminozuren met vertakte keten, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 6 |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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