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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Spinocerebellar ataxia type 12

MCCC1 PPP2R2B
MCCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCCC2
MCCC1
(0.68)
(0.56)
PPP2R2B
PPP2R2B



Citations in the biomedical literature:


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2
Spinocerebellar ataxia type 12
PPP2R2B



Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Spinocerebellar ataxia type 12

Synonym(s):
- 3-methylcrotonylglycinuria
- MCC deficiency
- MCCD

Synonym(s):
- SCA12

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C535308
External references:
1 OMIM reference -
No MeSH references

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

Very frequent
- Hypoglycemia
- Hypotonia
- Metabolic anomalies
- Organic acid metabolism anomalies

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperammonemia
- Movement disorder

Occasional
- Cerebral vascular anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Spinocerebellar ataxia type 12

(no data available)