Nonimmune hydrops fetalis with galactosialidosis: Consequences for family planning

Fetal Diagnosis and Therapy

Volumn 11, Issue 2, 1996, Pages 114-119

  Haverkamp, F ^a   Jacobs, D ^a   Cantz, M ^d   Hansmann, M ^b   Fahnenstich, H ^a  

^a Abt Allg Padiatrie Neonatologie   (Germany)

^b Frauenklinik   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Early infantile galactosialidosis; Genetic counselling; Nonimmune hydrops fetalis; Prenatal diagnosis

Indexed keywords

BETA GALACTOSIDE; OLIGOSACCHARIDE; SIALIDASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; CRANIOFACIAL MALFORMATION; ENZYME DEFICIENCY; FATALITY; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; GALACTOSIALIDOSIS; HEART FAILURE; HEPATOSPLENOMEGALY; HUMAN; NEWBORN; PEDIGREE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0030063414     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000264289     Document Type: Article

References (17)

1. Wenger DA, Tarby TJ, Wharton C: Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and p-galactosidasc deficiencies, Biochem Biophys Res Commun 1978;82:589-595.
2. Galjaard H, Hoogcveen AT, de Wit-Verbeek HA, Reuser AJJ, Ho MW, Robinson D: Genetic heterogeneity in GM1-gangliosidosis, Nature 1975;257:60-62.
3. Gravel RA, Lowdcn JA, Callahan JW, Wolfe LS, Ng Yin Kin NMK: Infantile sialidosis: A phenocopy of type I GM1 Gangliosidosis distinguished by genetic complementation and urinary oligosaccharides, Am J Hum Genet 1979,31:669-679.
4. Chitayat D, Applcgarth DA, Lewis J, Dimmick JE, McCormick AQ, Hall JG: Juvenile galactosialidosis in a white male: A new variant, Am J Med Genet 1988;31:887-901.
5. Loonen MCB, Reuser AJJ, Visscr P, Arts WFM: Combined sialidase (neuraminidase) and p-galactosi-dase deficiency: Clinical, morphological and enzymological observations in a patient, Clin Genet 1984; 26:139-149.
6. O'Brien JS: P-Galactosidasc deficiency (GM1 gangliosidosis, galactosialidosis, and Morquio syndrome type B): Gangliosidc sialidase deficiency (mucolipidosis IV); in Scriver CR (ed): The Metabolic Base of Inherited Disease, ed 2, New York, McGraw Hill, 1989, pp 1803-1806.
7. Palmeri S, Hoogeveen AT, Verhei-jen FW, Galjaard H: Galactosialidosis: Molecular heterogeneity among distinct phenotypes, Am J Hum Genet 1986;38:137-148.
8. Sewell AC, Pontz BF, Wcitzcl D, Humburg C: Clinical heterogeneity in infantile galactosialidosis, Eur J Pediatr 1987;146:528-531.
9. D’Azzo A, Hoogeveen AT, Reuser AJJ, Robinson D, Galjaard H: Molecular defect in combined p-galac-tosidase and neuraminidase deficiency in man, Proc Natl Acad Sci USA’1982;79:4535-4539.
10. Hoogeveen AT, Verheijen FW, Galjaard H: The relation between human lysosomal p-galactosidase and its protective protein, J Biol Chem 1983;258:12143-12146.
11. Sips HJ, de Wit-Verbeek HA, de Wit J, Westcrveld A, Galjaard H: The chromosomal localization of human p-galactosidase revisisted: A locus for P-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22, Hum Genet 1985;69:340-344.
12. Nanba E, Tsuji A, Omura K, Suzuki Y: Galactosialidosis: Molecular heterogeneity in biosynthesis and processing of protective protein for p-galactosidase, Hum Genet 1988;80: 329-332.
13. Kleijer WJ, Hoogeveen A, Verheijen FW, Niermeijer MF, Galjaard H, O’Brien JS, Warner TG: Prenatal diagnosis of sialidosis with combined neuraminidase and p-galacto-sidase deficiency, Clin Genet 1979; 16:60-61.
14. Sprangcr J: Mini review: Inborn errors of complex carbohydrate metabolism, Am J Med Genet 1987,28: 489-499.
15. Sewell AC, Pontz BF: Prenatal diagnosis of galactosialidosis, Prenatal Diagn 1988;8:151-155.
16. Gillan JE, Lowden JA, Gaskin K, Cutz E: Congenital ascites as a presenting sign of lysosomal storage disease, J Pediatr 1984;104:225-231.
17. McGillivray BC, Hall JG: Nonim-mune hydrops fetalis, Pediatr Rev 1987;9:197-201.