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Hypophosphatasia
(Lay language description written for a Magic Foundation meeting 20 July 1999 in Chicago for patients and parents.)
Michael P. Whyte, MD
I. Definitions
Enzyme -- A protein that breaks down other chemicals
Phosphate -- A mineral. Together with calcium, phosphate forms bone mineral crystals (hydroxyapatite)
Substrate -- A chemical broken down by an enzyme
Alkaline Phosphatase (ALP) -- One of many enzymes. Releases phosphate from substrates. Plentiful in cartilage, bone and liver
Pyridoxal 5'-phosphate (PLP) -- A form of vitamin B6
Phosphoethanolamine (PEA) -- A chemical found in urine
Inorganic Pyrophosphate (PPi) -- A chemical that can block bone mineral crystal formation
Growth Plate -- The area of cartilage at either end of a long bone where growth occurs
Rickets -- Soft bones in infants or children from undermineralized skeletal tissue
Osteomalacia -- Soft bones in adults (they have fused growth plates)
Gene -- A DNA structure that encodes how a protein, including enzymes like alkaline phosphatase, will be made by cells
Mutation -- A defect in a gene
Craniosynostosis -- Fusion of skull growth plates
Cementum -- A coating on tooth roots that anchors teeth to the jaw
Osteoblast -- The ALP-rich cell that makes bone
Pseudofracture -- A slowly-forming incomplete fracture
continued
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