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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
14 OMIM references -
13 associated genes
No signs/symptoms info
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Young adult-onset Parkinsonism

MCCC1 EIF4G1
MCCC2 GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCCC2
(0.63)
PARK2



Citations in the biomedical literature:


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Young adult-onset Parkinsonism

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

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C535308
External references:
14 OMIM references -
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


Young adult-onset Parkinsonism

(no data available)