Hypophosphatemic Osteomalacia with Hyperglycinuria
Authors: JEFFREY KALLMEYER
Journal: Annals of Internal Medicine (1967)

Case Studies1 January 1967Hypophosphatemic Osteomalacia with HyperglycinuriaJEFFREY KALLMEYER, M.B., GEORGE DUNEA, M.B., FRANKLIN D. SCHWARTZ, M.D.JEFFREY KALLMEYER, M.B.Search for more papers by this author, GEORGE DUNEA, M.B.Search for more papers by this author, FRANKLIN D. SCHWARTZ, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-66-1-136 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIn 1956 Dent and Harris (1) described four patients with hypophosphatemic osteomalacia (phosphate diabetes; vitamin D refractory osteomalacia), who differed from those with the hereditary form of the disease by onset of symptoms during adolescence or adult life, negative family history, and evidence of increased urinary excretion of glycine (2). We have recently studied a patient who presents a further example of this syndrome. The presence of hyperglycinuria was demonstrated by high-voltage chromatography (3) and quantitated by microbiological assay (4). Treatment with neutral phosphate and moderate doses of calciferol produced a gratifying clinical improvement.CASE REPORTA 24-year-old white female...References1. DENTHARRIS CEH: Hereditary forms of rickets and osteomalacia. J. Bone Joint Surg. [Brit.] 38: 204, 1956. CrossrefMedlineGoogle Scholar2. DENTFRIEDMAN CEM: Hypophosphataemic osteomalacia with complete recovery. Brit. Med. J. 1: 1676, 1964. CrossrefMedlineGoogle Scholar3. SACKETT DL: Adaptation of monodirectional high-voltage electrophoresis on long papers to the rapid qualitative identification of urinary amino acids. J. Lab. Clin. Med. 63: 306, 1964. MedlineGoogle Scholar4. Official Methods of Analysis of the Association of Official Agricultural Chemists, vol. 9. Washington, D. C., 1960. Google Scholar5. MATTENHEIMERPOLLAKMUEHRCKEKARK HVERCRM: Quantitative Enzymverteilungsmuster im Nephron. Verh. Deutsch. Ges. Inn. Med. 70: 597, 1964. Google Scholar6. JAWORSKIBROWNFEDORUKSEITZ ZFEMSH: A method for the study of calcium absorption by the human gut using a standard dose of calcium labeled with calcium47. New Eng. J. Med. 269: 1103, 1963. CrossrefMedlineGoogle Scholar7. FRAMESMITH BRW: Phosphate diabetes. Amer. J. Med. 25: 771, 1958. CrossrefMedlineGoogle Scholar8. FRAMEARNSTEINFROSTSMITH BARHMRW: Resistant osteomalacia: studies with tetracycline bone labeling and metabolic balance. Amer. J. Med. 38: 134, 1965. CrossrefMedlineGoogle Scholar9. HENNEMANDEMPSEYCARROLLHENNEMAN PHEFELDH: Acquired vitamin-D resistant osteomalacia: a new variety characterized by hypercalcemia, low serum bicarbonate and hyperglycinuria. Metabolism 11: 103, 1962. MedlineGoogle Scholar10. MCCANCE RA: Osteomalacia with Looser's nodes (Milkman's syndrome) due to raised resistance to vitamin D acquired about the age of 15. Quart. J. Med. 16: 33, 1947. MedlineGoogle Scholar11. SEGARIBERKYLE WEFLLH: Osteomalacia of unknown origin. New Eng. J. Med. 254: 1011, 1956. CrossrefMedlineGoogle Scholar12. ROSE GA: Role of phosphate in treatment of renal tubular (hypophosphataemic) rickets and osteomalacias. Brit. Med. J. 2: 857, 1964. CrossrefMedlineGoogle Scholar13. GLANVILLEBLOOM HJR: Case of renal tubular osteomalacia (Dent Type 2) with later development of autonomous parathyroid tumours. Brit. Med. J. 2: 26, 1965. CrossrefMedlineGoogle Scholar14. SCRIVERGOLDBLOOMROY CRRBCC: Hypophosphatemic rickets with renal hyperglycinuria, renal glucosuria, and glycyl-prolinuria. A syndrome with evidence for renal tubular secretion of phosphorus. Pediatrics 34: 357, 1964. MedlineGoogle Scholar15. WILSONYORKJAWORSKIYENDT DRSEZFER: Studies in hypophosphatemic vitamin D-refractory osteomalacia in adults. Medicine (Balt.) 44: 99, 1965. CrossrefMedlineGoogle Scholar16. HOWARD JE: Case records of the Massachusetts General Hospital—Case 38-1965. New Eng. J. Med. 273: 494, 1965. CrossrefMedlineGoogle Scholar17. DEVRIESKOCHWALAZEBNIKFRANKDJALDETTI ASIMM: Glycinuria: a hereditary disorder associated with nephrolithiasis. Amer. J. Med. 23: 408, 1957. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Chicago, IllinoisFrom the Department of Medicine, University of Illinois College of Medicine, Research and Educational Hospital and Presbyterian-St. Luke's Hospital, Chicago, Ill.This work was supported in part by grant HE-02253, the U. S. Public Health Service, Washington, D. C., and by a grant from the Illinois Rheumatism Foundation.Requests for reprints should be addressed to Franklin D. Schwartz, M.D., Presbyterian-St. Luke's Hospital, 1753 W. Congress Parkway, Chicago, Ill. 60612. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByDisorders of CalcificationMetabolic Bone DiseaseEffect of administration of oral neutral phosphate in hypophosphatemic ricketsRecent Progress in Osteomalacia and RicketsA. ROBERT ARNSTEIN, M.D., BOY FRAME, M.D., F.A.C.P., HAROLD M. FROST, M.D. 1 January 1967Volume 66, Issue 1Page: 136-141KeywordsCalciumEnzymesExcretionGenetic diseasesGlycineHospital medicineMedical servicesPhosphatasesPhosphatesVitamin D Issue Published: 1 January 1967 PDF DownloadLoading ...