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DO Term : carnitine-acylcarnitine translocase deficiency [DOID:0111585] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:1123,
  • NCI:C133086,
  • UMLS_CUI:C0342791,
  • 212138,
  • OMIM:212138,
  • ORDO:159,
  • CACTD,
  • CACT deficiency,
  • SNOMEDCT_US_2023_03_01:238003000,
  • MESH:C562812
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