|OBO ID: DOID:0111277|
|Term Name:||mitochondrial trifunctional protein deficiency||Search Ontology:|
|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. (3)|
|Ontology:||Human Disease (DOID:0111277)|
|is a type of:||
OTHER mitochondrial trifunctional protein deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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