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systemic primary carnitine deficiency disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Uniprot Description Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
Disease Ontology Description An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
Mondo Term and Equivalent IDs
MONDO:0008919:  systemic primary carnitine deficiency disease
GARD:0005104: 
MESH:C536778: 
NCIT:C98864: 
Orphanet:158: 
SCTID:21764004: 
UMLS:C0342788: