Defects in ALDOB are the cause of hereditary fructose intolerance (HFI). HFI is an autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. Belongs to the class I fructose-bisphosphate aldolase family. Note: This description may include information from UniProtKB.
Protein type: EC 126.96.36.199; Lyase; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - pentose phosphate pathway; Carbohydrate Metabolism - fructose and mannose
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.