Phenotypes associated with the disease glycogen storage disorder due to hepatic glycogen synthase deficiency (OMIM:240600):
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:240600)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: TAS. (OMIM:240600)
- 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: IEA. (OMIM:240600)
- Neonatal hypoglycemia (HP:0001998). Evidence: IEA. (OMIM:240600)
- Postprandial hyperglycemia (HP:0011998): An increased concentration of glucose in the blood following a meal. Evidence: TAS. (OMIM:240600)
- Fasting hypoglycemia (HP:0003162). Evidence: IEA. (OMIM:240600)
- Ketosis (HP:0001946): Presence of elevated levels of ketone bodies in the body. Evidence: IEA. (OMIM:240600)