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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Perry syndrome

MCCC1 DCTN1
MCCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCCC1
(0.49)
DCTN1



Citations in the biomedical literature:


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
MCCC1 MCCC2
Perry syndrome
DCTN1



Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Perry syndrome

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

Synonym(s):
- Parkinsonism with alveolar hypoventilation and mental depression

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: <1 / 1 000 000
Average age onset: adulthood
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


COMMON
SIGNS
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Perry syndrome

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


Very frequent
- Autosomal dominant inheritance
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Sleep and vigilance disorders
- Tremor
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Delirium / hallucination
- Early death / lethality
- Hypotension
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Psychosis / schizophrenia / maniac disorder