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propionic acidemia
Summary
- Synonym
-
- GLYCINEMIA, KETOTIC
- KETOTIC HYPERGLYCINEMIA
- ketotic II glycinemia
- ketotic glycinemia
- propionic aciduria
- propionyl-CoA carboxylase deficiency
- Definition
- An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
- Super Class
- organic acidemia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05165 | Propionyl-CoA carboxylase alpha chain, mitochondrial | |
| P05166 | Propionyl-CoA carboxylase beta chain, mitochondrial | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002509 | Limb hypertonia |
| HP:0002789 | Tachypnea |
| HP:0003108 | Hyperglycinuria |
| HP:0003128 | Lactic acidosis |
| HP:0004322 | Short stature |
| HP:0004396 | Poor appetite |
| HP:0006846 | Acute encephalopathy |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008936 | Axial hypotonia |
| HP:0011695 | Cerebellar hemorrhage |
