Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue- nonspecific alkaline phosphatase gene

European Journal of Pediatrics

Volumn 159, Issue 5, 2000, Pages 375-379

  Mochizuki, Hiroshi ^a   Saito, Mariko ^b   Michigami, Toshimi ^b   Ohashi, Hirofumi ^a   Koda, Naoya ^a   Yamaguchi, Shuichi ^a   Ozono, Keiichi ^b  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Alkaline phosphatase; Hypercalcaemia; Infantile hypophosphatasia; Respiratory insufficiency; TNSALP gene

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPOPHOSPHATASIA; INFANT; MALE; PRIORITY JOURNAL; RESPIRATORY FAILURE;

EID: 0034095201     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051290     Document Type: Article

References (17)

1. 1. Barcia JP, Strife CF, Langman CB (1997) Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 130: 825-828
2. 2. Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, Yamagata M, Shima M, Nakajima S, Mushiake S, Okada M (1998) Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J Clin Endocrinol Metab 83: 3936-3942
3. 3. Caswell AM, Russell RG, Whyte MP (1989) Hypophosphatasia: pediatric forms. J Pediatr Endocrinol 3: 73-92
4. 4. Fallon MF, Teitelbaum SL, Weinstein RS, Goldfisher S, Brown DM, Whyte MP (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine 63: 12-24
5. 5. Greenberg CR, Evans JA, McKendry-Smith S (1990) Infantile hypophosphatasia: localization with chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46: 286-292
6. 6. Henthorn PS, Whyte MP (1992) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 38: 2501-2505
7. 7. Lowry OH, Roberts NR, Wu ML, Hixon WS, Crawford EJ (1954) The quantitative histochemistry of brain. II. Enzyme measurements. J Biol Chem 207: 19-37
8. 8. Orimo H, Goseki-Sone M, Sato S, Shimada T (1997) Detection of deletion 1154-1156 hypophosphatasia mutation using TNS-ALP exon amplification. Genomics 42: 364-366
9. 9. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 81: 4458-4461
10. 10. Teree TM, Klein L (1968) Hypophosphatasia: clinical and metabolic studies. J Pediatr 72: 41-50
11. 11. Tsukahara H, Miura M, Hori C, Hiraoka M, Nosaka K, Hata K, Konishi Y, Sudo M (1996) Urinary excretion of pyridinium cross-links of collagen in infancy. Metabolism 45: 510-514
12. 12. Weiss MJ, Cole DEC, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85: 7666-7669
13. 13. Weiss MJ, Henthorn PS, Lafferty MA, Slaughter C, Raducha M, Harris H (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc Natl Acad Sci USA 83: 7182-7186
14. 14. Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263: 12002-12010
15. 15. Whyte MP (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15: 439-461
16. 16. Whyte MP, Valdes R Jr, Ryan LM, McAlister WH (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 101: 379-386
17. 17. Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8: 1039-1046