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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:0002167 | Abnormality of speech or vocalization |
| HP:0001290 | Generalized hypotonia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0002919 | Ketonuria |
| HP:0001397 | Hepatic steatosis |
| HP:0001265 | Hyporeflexia |
| HP:0001987 | Hyperammonemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001640 | Cardiomegaly |
| HP:0003215 | Dicarboxylic aciduria |
