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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

OMIM

255120

GARD

1120

MGI genotype (from TogoID)

3606425

WikiPathways (from TogoID)

WP5123

Related Genes

Displaying **all 6** entries
Gene ID	Gene Symbol	Description	Source
34	ACADM	acyl-CoA dehydrogenase medium chain	DisGeNET
1374	CPT1A	carnitine palmitoyltransferase 1A	DisGeNET DisGeNET Alliance of Genome Resources
1376	CPT2	carnitine palmitoyltransferase 2	DisGeNET
3295	HSD17B4	hydroxysteroid 17-beta dehydrogenase 4	DisGeNET
5213	PFKM	phosphofructokinase, muscle	DisGeNET
5224	PGAM2	phosphoglycerate mutase 2	DisGeNET

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

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
25757	Cpt1a	carnitine palmitoyltransferase 1A	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 5** entries
UniProt ID	Protein Name	Source
P08237	ATP-dependent 6-phosphofructokinase, muscle type	DisGeNET
P11310	Medium-chain specific acyl-CoA dehydrogenase, mitochondrial	DisGeNET
P23786	Carnitine O-palmitoyltransferase 2, mitochondrial	DisGeNET
P50416	Carnitine O-palmitoyltransferase 1, liver isoform	DisGeNET DisGeNET
P51659	Peroxisomal multifunctional enzyme type 2	DisGeNET

The Human Phenotype Ontology

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

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HPO ID	HPO Term
HP:0001639	Hypertrophic cardiomyopathy
HP:0003202	Skeletal muscle atrophy
HP:0001254	Lethargy
HP:0011675	Arrhythmia
HP:0001947	Renal tubular acidosis
HP:0001250	Seizure
HP:0002240	Hepatomegaly
HP:0001315	Reduced tendon reflexes
HP:0007185	Loss of consciousness
HP:0001939	Abnormality of metabolism/homeostasis