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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
13 OMIM references -
14 associated genes
No signs/symptoms info
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Autosomal dominant nonsyndromic intellectual deficit

MCCC1 CACNG2
MCCC2 CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCCC1
MCCC2
(0.49)
(0.49)
DYNC1H1
DYNC1H1



Citations in the biomedical literature:


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2
Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4



Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Autosomal dominant nonsyndromic intellectual deficit

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

Synonym(s):
(no synonyms)

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):
(no data available)

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C535308
External references:
13 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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)