A new case of β mannosidose;β mannosidose : Une nouvelle observation

Archives de Pediatrie

Volumn 4, Issue 2, 1997, Pages 147-151

  Gourrier, E ^a,e   Thomas, M P ^a,b   Munnich, A ^a,c   Poenaru, L ^a,d   Asensi, D ^a,b   Jan, D ^a,b   Leraillez, J ^a,b  

^a Service de Néonatologie et Réanimation   (France)

^b CENTRE HOSPITALIER RENÉ DUBOS   (France)

^c Service de Génétique Médicate   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Hôpital Cochin ^*  (France)

Author keywords

Mannosidases; Mannosidosis

Indexed keywords

BETA MANNOSIDASE;

ARTICLE; CASE REPORT; FEMALE; HEARING LOSS; HUMAN; INFANT; MANNOSIDOSIS; MENTAL DEFICIENCY; SPEECH DISORDER;

EID: 0031053154     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0929-693x(97)86159-3     Document Type: Article

References (17)

1. I Jones MZ, Dawson G. Caprine β-mannosidosis, inherited deficiency of β-D-mannosidase. J Biol Chem 1981:256: 5185-8
2. Jones MZ, Cunningham JG, Dade AW, Alessi DM, Caprine neurovisceral storage disease resembling mannosidosis [Abstract]. Soc Neurosci 1979;5:513
3. Jones MZ, Laine RA, Caprine oligosaccharide storage disease: accumulation of β-mannosyl(1-4 β-N-acetylglucosaminyl (I-4)N acetyl glucosamine in brain. J Biol Chem 1981;256:5181-4
4. Jones MZ, Cunningham JG, Dade AW and al. Caprine β-mannosidosis: clinical and pathological features. J Neuropathol Exp Nearol 1983;42:268-85
5. Panday RS, Van Diggelen OP, Kleijer WJ, Niermeijer MF. β-mannosidase in human leukncytes and fibroblasts. J Inherit Metab Dis 1984;7:155-6
6. Wenger DA, Sujansky E, Fennessey PV, Thompson JN, Human β-munnosidase deficiency. N Engl J Med 1986;315: 1201-5
7. Cooper A. Sardharwalla IB, Roberts MM, Human β-mannosidase deficiency, N Engl J Med 1986;315:1231
8. Dorland L, Duran M, Hoefnagels FET et al. β-mannosidosis in two brothers with hearing loses. J Inherit Metab Dis 1988;11 (suppl 2):255-8
9. Kleijer WJ, Hu P, Thoomes R et al. β-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. J Inherit Metab Dis 1990;13:867-72
10. Poenaru L, Akli S, Rocchiccioli F, Eydoux P, Zamet P, Haman β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. Clin Genet 1992; 41:331-4
11. Cooper A, Wraith JE, Savage WJ, Thornley M, Noronha MJ. β-mannosidase deficiency in a female infant with epileptic encephalopathy. J Inherit Metab Dis 1991;14:18-22
12. Wijburg H, de Jong J, Wevers R. Bakheren J, Trijbels F, Sengers R. β-mannosidosis and ethanolaminuria in a female patient. Cur J Pediatr 1992;151:311
13. Levade T, Graber D, Flurin V et al. Human β-mannosidase deficiency associated with peripheral neuropathy. Ann Neurol 1994;35:116-9
14. Kleijer WJ, Geilen GC, Van Diggelen OP, Wevers RA, Los FJ, Prenatal analyses in a pregnancy at rick for β-mannosidosis. Prenat Diagn 1992;12:841-3
15. Hu P, Wenger DA, Van Diggelen OP, Kleijer WJ, Complementation studies in human and caprine β-mannosidosis. J Inherit Metab Dis 1991;14:13-7
16. Cooper A, Hatton CE, Thornley M, Sardharwalla IB. α- and β-mannosidoses. J Inherit Metab Dis 1990;13:538-48
17. Alkhayat AH, Kraemcr SA, Leipprandt JR, Jones MZ, Friderici K. Cloning and characterization of human β-mannosidase. Annual meeting of the Society for Human Genetics, Minneapolis. Octobre 1995: Abstract 788