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Carnitine palmitoyl transferase 1 deficiency

MedGen UID:
316820
Concept ID:
C1829703
Disease or Syndrome
Synonyms: Carnitine palmitoyltransferase 1A deficiency; CPT1A deficiency; Hepatic carnitine palmitoyltransferase 1 deficiency; Hepatic CPT1; L-CPT 1 deficiency
SNOMED CT: Carnitine palmitoyltransferase deficiency type 1 (238001003); Carnitine palmitoyltransferase I deficiency (238001003); Liver form of carnitine palmitoyltransferase deficiency (238001003); CPTI - Carnitine palmitoyltransferase deficiency type I (238001003); CPT1 - Carnitine palmitoyltransferase I deficiency (238001003)
 
OMIM®: 255120; 600528

Definition

A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarnitine palmitoyl transferase 1 deficiency

Recent clinical studies

Diagnosis

Tamvakopoulos CS, Willi S, Anderson VE, Hale DE
Biochem Mol Med 1995 Jun;55(1):15-21. PMID: 7551821

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