Phenotypes associated with the disease succinyl-CoA:3-ketoacid CoA transferase deficiency (OMIM:245050):
- Episodic ketoacidosis (HP:0005974): Intermittent episodes of ketoacidosis. Evidence: PCS. (PMID:8751852)
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: IEA. (OMIM:245050)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:245050)
- Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts (HP:6000361): Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts. Evidence: PCS. Frequency: 1/1. (PMID:11757586)
- Elevated urinary 3-hydroxybutyric acid (HP:0040155): An increased amount of 3-hydroxybutyric acid in the urine. Evidence: PCS. (PMID:8751852)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10964512)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: IEA. (OMIM:245050)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:8751852)