has material basis in germline mutation in disease disrupts disease causes disruption of CPT1A fatty acid oxidation carnitine palmitoyl transferase 1A deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency https://www.malacards.org/card/carnitine_palmitoyltransferase_i_deficiency Editor note: consider adding sibling for CPT-1B DOID:0090129 NANDO:2200509 hepatic carnitine palmitoyltransferase 1 deficiency MESH:C535588 NCIT:C98871 carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency carnitine palmitoyltransferase I deficiency GARD:0001120 MONDO:0009705 ICD9:277.85 UMLS:C1829703 CPT1A disorder of carnitine cycle and carnitine transport hepatic carnitine palmitoyl transferase I deficiency disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A Carnitine Palmitoyltransferase 1A Deficiency Carnitine palmitoyl transferase 1 deficiency hepatic CPT1 Orphanet:156 NANDO:1200970 L-CPT1 deficiency SCTID:238001003 CPT1A deficiency Carnitine palmitoyl transferase IA deficiency HGNC:2328 MEDGEN:316820 L-CPTI deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. OMIM:255120 L-CPT 1 deficiency cpt deficiency, hepatic, type IA hepatic carnitine palmitoyl transferase 1 deficiency Carnitine palmitoyltransferase 1A deficiency NORD:894 disorder of carnitine cycle and carnitine transport inherited fatty acid metabolism disorder carnitine palmitoyl transferase deficiency