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Term:
3-Methylcrotonyl-CoA carboxylase deficiency (DOID:0050710)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
3-Methylcrotonyl-CoA carboxylase deficiency +   
An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)
argininosuccinic aciduria  
atrophic muscular disease +   
autosomal recessive osteopetrosis 3  
carbamoyl phosphate synthetase I deficiency disease  
Citrulline Transport Defect 
citrullinemia +   
cysticercosis +  
distal arthrogryposis +   
epidemic pleurodynia 
gas gangrene 
hyperargininemia  
malignant hyperthermia +   
Muscle Tissue Neoplasms +   
myopathy +   
myostatin-related muscle hypertrophy  
N-Acetyl Glutamate Synthetase Deficiency  
ornithine carbamoyltransferase deficiency  
ornithine translocase deficiency  
rippling muscle disease 1  
sinoatrial node disease +   
toxocariasis +   

Synonyms
Exact Synonyms: 3-Methylcrotonylglycinuria ;   3MCC deficiency ;   BMCC deficiency
Primary IDs: RDO:9004917
Xrefs: GARD:10954 ;   OMIM:PS210200
Definition Sources: http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, http://omim.org/entry/210200

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.