Phenotypes associated with the disease glutaric acidemia type 3 (OMIM:231690):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:231690)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. (OMIM:231690)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:231690)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:231690)
- Glutaric aciduria (HP:0003150): The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:18926513)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. (OMIM:231690)
- 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:18926513)
- Reduced peroxisomal glutaryl-CoA oxidase activity (HP:0034688): Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA. Evidence: PCS. (PMID:1909402)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:231690)