Mitochondrial trifunctional protein deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_metabolic_disorder
|
| gptkbp:affects |
fatty acid beta-oxidation
mitochondrial trifunctional protein |
| gptkbp:category |
gptkb:mitochondrial_disease
gptkb:fatty_acid_oxidation_disorder |
| gptkbp:causedBy |
mutations in HADHA gene
mutations in HADHB gene |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay acylcarnitine profile |
| gptkbp:firstDescribed |
1992
|
| gptkbp:inheritsFrom |
autosomal recessive
|
| gptkbp:OMIM |
609015
|
| gptkbp:symptom |
gptkb:peripheral_neuropathy
gptkb:hypoglycemia gptkb:cardiomyopathy muscle weakness liver dysfunction rhabdomyolysis |
| gptkbp:treatment |
dietary management
avoidance of fasting medium-chain triglyceride supplementation |
| gptkbp:bfsParent |
gptkb:Mitochondrial_trifunctional_protein
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
Mitochondrial trifunctional protein deficiency
|