| Metadata | |
|---|---|
| ID | DOID:0111585 |
| Name | carnitine-acylcarnitine translocase deficiency |
| 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 the SLC25A20 gene on chromosome 3p21.31. https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/15363639, https://www.ncbi.nlm.nih.gov/pubmed/9399886 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238003000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CACT deficiency [EXACT] CACTD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |