- Lethargy (HP:0001254, a Human Phenotype Ontology term): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: IEA. (OMIM:229600)
- Hepatic steatosis (HP:0001397, a Human Phenotype Ontology term): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: IEA. (OMIM:229600)
- Fructose intolerance (HP:0005973, a Human Phenotype Ontology term): Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. Evidence: IEA. (OMIM:229600)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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:229600)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: IEA. (OMIM:229600)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: IEA. (OMIM:229600)
- Glycosuria (HP:0003076, a Human Phenotype Ontology term): An increased concentration of glucose in the urine. Evidence: IEA. (OMIM:229600)
- Reduced hepatic fructose-1,6-phosphate aldolase activity (HP:0034830, a Human Phenotype Ontology term): Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal. Evidence: PCS. (PMID:213970)
- Transient aminoaciduria (HP:0008273, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:229600)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:229600)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:229600)
- Hyperphosphaturia (HP:0003109, a Human Phenotype Ontology term): An increased excretion of phosphates in the urine. Evidence: IEA. (OMIM:229600)
- Nausea (HP:0002018, a Human Phenotype Ontology term): A sensation of unease in the stomach together with an urge to vomit. Evidence: IEA. (OMIM:229600)
- Bicarbonaturia (HP:0003646, a Human Phenotype Ontology term): Abnormally increased concentration of hydrogencarbonate in the urine. Evidence: IEA. (OMIM:229600)
- Proximal tubulopathy (HP:0000114, a Human Phenotype Ontology term): Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Evidence: TAS. (OMIM:229600)
- Gastrointestinal hemorrhage (HP:0002239, a Human Phenotype Ontology term): Hemorrhage affecting the gastrointestinal tract. Evidence: IEA. (OMIM:229600)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: IEA. (OMIM:229600)
- Jaundice (HP:0000952, a Human Phenotype Ontology term): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:229600)
- Metabolic acidosis (HP:0001942, a Human Phenotype Ontology term): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: IEA. (OMIM:229600)
- Hyperuricosuria (HP:0003149, a Human Phenotype Ontology term): An abnormally high level of uric acid in the urine. Evidence: IEA. (OMIM:229600)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. (OMIM:229600)
- Lactic acidosis (HP:0003128, a Human Phenotype Ontology term): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: IEA. (OMIM:229600)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:229600)
- Malnutrition (HP:0004395, a Human Phenotype Ontology term): A deficiency in the intake of energy and nutrients. Evidence: IEA. (OMIM:229600)
- Hyperbilirubinemia (HP:0002904, a Human Phenotype Ontology term): An increased amount of bilirubin in the blood. Evidence: IEA. (OMIM:229600)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:229600)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:229600)
- Proximal renal tubular acidosis (HP:0002049, a Human Phenotype Ontology term): A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. Evidence: IEA. (OMIM:229600)
- Hypophosphatemia (HP:0002148, a Human Phenotype Ontology term): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:229600)
- Coma (HP:0001259, a Human Phenotype Ontology term): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: IEA. (OMIM:229600)
- Hyperuricemia (HP:0002149, a Human Phenotype Ontology term): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:229600)
These phenotypes are associated with the disease hereditary fructose intolerance (OMIM:229600, an entry in Online Mendelian Inheritance in Man).