Mitochondrial Pyruvate Carrier Deficiency
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
mitochondrial pyruvate transport
|
| gptkbp:cause |
hypotonia
failure to thrive lactic acidosis neurodevelopmental delay |
| gptkbp:diagnosedBy |
genetic testing
metabolic studies |
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mitochondrial Pyruvate Carrier Deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:MPC1_gene
gptkb:MPC2_gene |
| gptkbp:OMIM |
614741
|
| gptkbp:symptom |
muscle weakness
seizures developmental delay elevated lactate levels |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:MPD
|
| gptkbp:bfsLayer |
6
|