Carnitine Palmitoyltransferase I Deficiency
Disease ID: disease_node_16968
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| Dbxref | GARD:1120, ICD10CM:E71.3, MIM:255120, ORDO:156 |
|---|---|
| Subclassof | DOID_3146 |
| Data Source | DOID |
| Synonyms | CPT I deficiency, CPT1A deficiency, L-CPT1 deficiency, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyl transferase IA deficiency, hepatic CPT deficiency type I, hepatic carnitine palmitoyl transferase 1 deficiency, hepatic carnitine palmitoyl transferase I deficiency |
| Doid Label | carnitine palmitoyltransferase I deficiency |
| Doid Description | 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. |
| Disease Node Id | disease_node_16968 |
| Doid Id | DOID_0090129 |
| Disease Has Basis In | SO_0001537 |
| Label | Carnitine Palmitoyltransferase I Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease)