pyruvate carboxylase deficiency
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
gptkb:pyruvate_carboxylase_enzyme
citric acid cycle gluconeogenesis |
| gptkbp:cause |
gptkb:hypoglycemia
hyperammonemia lactic acidosis neurological dysfunction |
| gptkbp:causedBy |
mutation in the PC gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1960s
|
| https://www.w3.org/2000/01/rdf-schema#label |
pyruvate carboxylase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
266150
|
| gptkbp:prevalence |
very rare
|
| gptkbp:subspecies |
Type A (infantile form)
Type B (neonatal form) Type C (mild form) |
| gptkbp:symptom |
seizures
failure to thrive developmental delay |
| gptkbp:treatment |
dietary management
biotin supplementation |
| gptkbp:bfsParent |
gptkb:pyruvate_carboxylase
|
| gptkbp:bfsLayer |
7
|