Hypophosphatasia (phosphoethanolaminuria)

General: Inborn error of metabolism that entails increased urinary excretion of 858j98i phosphoethanolamine and associated low alkaline phosphatase and hypercalcemia; prevalent in females; may result from absence or abnormal circulating factor regulating expression of alkaline phosphatase.

Ocular: Papilledema; optic atrophy; exophthalmos; blue sclera; conjunctival calcification; lid retraction; cataract; corneal subepithelial calcifications.

Clinical: Defect in true bone formation associated with widespread skeletal abnormalities; low serum alkaline phosphatase activity; hypercalcemia; nausea; vomiting; bowing of legs; convulsions; premature loss of teeth.

Brenner RL, et al. Eye signs of hypophosphatasia. Arch Ophthalmol 1969; 81:614.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Whyte MP, et al. Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization: evidence for an intact structural gene for tissue non-specific alkaline phosphatase. J Pediatr 1986; 108:82-88.