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mitochondrial trifunctional protein deficiency
Summary
- Synonym
-
- MTPD
- TFP deficiency
- TFPD
- Definition
- A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3.
- Super Class
- autosomal recessive disease lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0111277
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000580 | Pigmentary retinopathy |
| HP:0000829 | Hypoparathyroidism |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001324 | Muscle weakness |
| HP:0001396 | Cholestasis |
