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DO Term : carnitine palmitoyltransferase I deficiency [DOID:0090129] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • carnitine palmitoyl transferase IA deficiency,
  • hepatic CPT deficiency type I,
  • hepatic carnitine palmitoyl transferase 1 deficiency,
  • CPT1A deficiency,
  • L-CPT1 deficiency,
  • OMIM:255120,
  • GARD:1120,
  • ORDO:156,
  • 255120,
  • ICD10CM:E71.3,
  • hepatic carnitine palmitoyl transferase I deficiency,
  • CPT I deficiency,
  • carnitine palmitoyl transferase 1A deficiency
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