| Metadata | |
|---|---|
| ID | DOID:0090129 |
| Name | carnitine palmitoyltransferase I deficiency |
| Definition | A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. https://www.omim.org/entry/255120, https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
carnitine palmitoyl transferase 1A deficiency [EXACT] carnitine palmitoyl transferase IA deficiency [EXACT] CPT I deficiency [EXACT] CPT1A deficiency [EXACT] hepatic carnitine palmitoyl transferase 1 deficiency [EXACT] hepatic carnitine palmitoyl transferase I deficiency [EXACT] hepatic CPT deficiency type I [EXACT] L-CPT1 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |