GlyCosmos Portal

Submissions

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

External Links

Disease Ontology

DOID:0090129

Mondo Disease Ontology

MONDO:0009705

ORDO

156

GARD

1120

MGI genotype (from TogoID)

3606425

WikiPathways (from TogoID)

WP5123

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
1374	CPT1A	carnitine palmitoyltransferase 1A	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
12894	Cpt1a	carnitine palmitoyltransferase 1a, liver	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
P50416	Carnitine O-palmitoyltransferase 1, liver isoform	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 37 in total

1

2

3

4

Next ›

Last »
HPO ID	HPO Term
HP:0001315	Reduced tendon reflexes
HP:0001943	Hypoglycemia
HP:0011675	Arrhythmia
HP:0001259	Coma
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003202	Skeletal muscle atrophy
HP:0008279	Transient hyperlipidemia
HP:0001250	Seizure
HP:0001645	Sudden cardiac death
HP:0001939	Abnormality of metabolism/homeostasis