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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
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| 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 |
