has material basis in germline mutation in SLC25A20 hypertrophic cardiomyopathy heart disorder carnitine-acylcarnitine translocase deficiency https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency https://www.malacards.org/card/carnitine_acylcarnitine_translocase_deficiency Orphanet:159 icd11.foundation:677949122 MONDO:0008918 SCTID:238003000 NCIT:C133086 OMIM:212138 DOID:0111585 CACT deficiency NANDO:1200972 GARD:0001123 Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. NANDO:2200511 MEDGEN:91000 UMLS:C0342791 MESH:C562812 CACTD carnitine-acylcarnitine translocase deficiency disorder of fatty acid oxidation and ketogenesis disorder of carnitine cycle and carnitine transport