|OBO ID: DOID:0111585|
|Term Name:||carnitine-acylcarnitine translocase deficiency||Search Ontology:|
|Definition:||A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31. (3)|
|Ontology:||Human Disease (DOID:0111585)|
|is a type of:||
OTHER carnitine-acylcarnitine translocase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.