ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
10 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

PHKA2	(UniProt - OMIM)		MCCC1	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)		MCCC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	MCCC1

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		Isolated 3-methylcrotonyl-CoA carboxylase deficiency
	Synonym(s): - GSD due to liver phosphorylase kinase deficiency - GSD type 9A - GSD type 9C - GSD type IXa - GSD type IXc - Glycogen storage disease type 9A - Glycogen storage disease type 9C - Glycogen storage disease type IXa - Glycogen storage disease type IXc - Glycogenosis due to liver phosphorylase kinase deficiency - Glycogenosis type 9A - Glycogenosis type 9C - Glycogenosis type IXa - Glycogenosis type IXc - XLG		Synonym(s): - 3-methylcrotonylglycinuria - MCC deficiency - MCCD

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

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
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)