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Titolo:
Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation
Autore:
Westphal, V; Kjaergaard, S; Davis, JA; Peterson, SM; Skovby, F; Freeze, HH;
Indirizzi:
Univ Copenhagen Hosp, Rigshosp 4062, Dept Clin Genet, DK-2100 Copenhagen, Denmark Univ Copenhagen Hosp Copenhagen Denmark DK-2100 2100 Copenhagen, Denmark Burnham Inst, La Jolla, CA 92037 USA Burnham Inst La Jolla CA USA 92037Burnham Inst, La Jolla, CA 92037 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 1, volume: 73, anno: 2001,
pagine: 77 - 85
SICI:
1096-7192(200105)73:1<77:GAMAOT>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; N-GLYCOSYLATION; GLUCOSE; HYPOGLYCEMIA; FIBROBLASTS;
Keywords:
phosphomannose isomerase; PMI; carbohydrate deficiency; CDG; CDG-Ib; disorders;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Kjaergaard, S Univ Copenhagen Hosp, Rigshosp 4062, Dept Clin Genet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen Hosp Blegdamsvej 9 Copenhagen Denmark DK-2100
Citazione:
V. Westphal et al., "Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation", MOL GEN MET, 73(1), 2001, pp. 77-85

Abstract

We report the diagnosis and follow-up of two sibs reported in 1980 with recurrent venous thromboses and protein-losing enteropathy; one sib with biopsy-proven hepatic fibrosis died at age 5. The combination of symptoms was suggestive of the recently characterized congenital disorder of glycosylation type Ib (CDG-Ib), which is caused by a deficiency of the enzyme phosphomannose isomerase (PMI). An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. Furthermore, mutational analysis of the MPI gene revealed two missense mutations, 419 T --> C (I140T) and 636 G -->A (R219Q), a single base substitution in intron 5, 670 + 9G --> A, as well as a polymorphism 1131A --> C (V377V) in both sibs. The surviving 33-year-old sib has had no further symptoms following childhood. Short-term low-dose oral mannose supplementation improved her transferrin IEF pattern and normalized her antithrombin III activity, further substantiating the beneficial effect of mannose in CDG-Ib. When her mannose blood level was measured, she showed a lower steady-state levelbut a faster mannose clearance rate. These results suggest that the clinical manifestations of PMI deficiency, although serious in childhood, can improve with age, even without mannose therapy, and allow for a normal adult life. However, the long-term prognosis may vary from patient to patient. (C)2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 09:54:51