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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:0001638 | Cardiomyopathy |
| HP:0002240 | Hepatomegaly |
| HP:0001263 | Global developmental delay |
| HP:0001987 | Hyperammonemia |
| HP:0001249 | Intellectual disability |
| HP:0003353 | Propionyl-CoA carboxylase deficiency |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0001943 | Hypoglycemia |
| HP:0011675 | Arrhythmia |
| HP:0002019 | Constipation |
