carnitine palmitoyltransferase I deficiency

Summary
Synonym
  • CPT I deficiency
  • CPT1A deficiency
  • L-CPT1 deficiency
  • carnitine palmitoyl transferase 1A deficiency
  • carnitine palmitoyl transferase IA deficiency
  • hepatic CPT deficiency type I
  • hepatic carnitine palmitoyl transferase 1 deficiency
  • hepatic carnitine palmitoyl transferase I deficiency
Definition
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.
Super Class
lipid metabolism disorder
Disease Ontology
DOID:0090129
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1374 CPT1A carnitine palmitoyltransferase 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12894 Cpt1a carnitine palmitoyltransferase 1a, liver
Displaying 1 entry
Gene ID Gene Symbol Description Source
25757 Cpt1a carnitine palmitoyltransferase 1A
The Human Phenotype Ontology
Displaying entries 11 - 20 of 37 in total
HPO ID HPO Term
HP:0000708 Atypical behavior
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001399 Hepatic failure
HP:0008279 Transient hyperlipidemia
HP:0001252 Hypotonia
HP:0001943 Hypoglycemia
HP:0012378 Fatigue
HP:0001645 Sudden cardiac death
HP:0004374 Hemiplegia/hemiparesis
HP:0001259 Coma
Displaying 1 entry
Gene ID Gene Symbol Description
1374 CPT1A carnitine palmitoyltransferase 1A

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024