title: Adult hypophosphatasia. Current aspects.
abstract: Hypophosphatasia is an inborn metabolic disorder in which abnormally low levels of the enzyme nonspecific alkaline phosphatase result in defective skeletal and dental mineralization (rickets, fractures, dental abnormalities) and in accumulation of the enzyme substrates (phosphoethanolamine, pyridoxal-5'phosphate and inorganic pyrophosphate). The build-up of inorganic pyrophosphate promotes the development of articular chondrocalcinosis. There are several forms of hypophosphatasia, with wide variations in severity. We report the case of a 53-year-old man with typical manifestations of moderate adulthood hypophosphatasia. Investigations in his family found the disease in a sister and two children. He had two autosomal mutations, which were transmitted recessively. Several mutations of the alkaline phosphatase gene have been identified. The genotype is correlated with the phenotype: some mutations are associated with milder forms and others with more severe forms of the disease.
authors.affiliation: Rheumatology department, CHU Jean Minjoz, Besançon, France.
authors.forename: D
authors.initials: D
authors.lastname: Wendling
authors.forename: L
authors.initials: L
authors.lastname: Jeannin-Louys
authors.forename: P
authors.initials: P
authors.lastname: Kremer
authors.forename: F
authors.initials: F
authors.lastname: Fellmann
authors.forename: E
authors.initials: E
authors.lastname: Toussirot
authors.forename: E
authors.initials: E
authors.lastname: Mornet
mesh_terms: D017668:Age of Onset; D000469:Alkaline Phosphatase / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D000469:Alkaline Phosphatase