ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Acute neonatal citrullinemia type I

Dopa-responsive dystonia due to sepiapterin reductase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASS1	(0.49)	SPR

Citations in the biomedical literature:

Acute neonatal citrullinemia type I		Dopa-responsive dystonia due to sepiapterin reductase deficiency
	Synonym(s): - Acute neonatal citrullinemia type 1 - Classic citrullinemia type 1 - Classic citrullinemia type I		Synonym(s): - Autosomal recessive sepiapterin reductase-deficient DRD - DRD autosomique rÃ©cessive par dÃ©ficit en sÃ©piaptÃ©rine rÃ©ductase - DRD due to SRD - SPR deficiency - Sepiapterin reductase deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - 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: - 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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

No signs/symptoms info available.