ABSTRACT
BACKGROUND: There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency. CASE PRESENTATION: We report a boy with MAT I/III deficiency, in whom plasma methionine and total homocysteine, and urinary homocystine were elevated. Molecular genetic studies showed him to have novel compound heterozygous mutations of the MAT1A gene: c.191T>A (p.M64K) and c.589delC (p.P197LfsX26). A low methionine milk diet was started at 31 days of age, and during continuing dietary methionine restriction plasma methionine levels have been maintained at less than 750 µmol/L. He is now 5 years old, and has had entirely normal physical growth and psychomotor development. CONCLUSIONS: Although some severely MAT I/III deficient patients have developed neurologic abnormalities, we report here the case of a boy who has remained neurologically and otherwise normal for 5 years during methionine restriction, suggesting that perhaps such management, started in early infancy, may help prevent neurological complications.
Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Methionine Adenosyltransferase/deficiency , Methionine Adenosyltransferase/genetics , Amino Acid Metabolism, Inborn Errors/pathology , Child, Preschool , Glycine N-Methyltransferase/deficiency , Heterozygote , Homocysteine/blood , Homocysteine/urine , Humans , Male , Methionine/blood , Mutation , Nervous System Diseases/genetics , Nervous System Diseases/pathologyABSTRACT
Hemangioblasts are common progenitors of hematopoietic and angiogenic cells, which have been demonstrated in the mouse to possess a unique cell surface marker, podocalyxin-like protein 1 (PCLP1) (Hara, T. et al., Immunity, 11: 567-578. 1999). In this study, we prepared a novel monoclonal antibody against human PCLP1 (hPCLP1) and attempted to isolate human hematopoietic progenitor cells from umbilical cord blood and peripheral blood using nano-sized bacterial magnetic particles (BacMPs) coupled with the anti-hPCLP1 antibody. Flow cytometric analysis demonstrated that the purity of separated hPCLP1-positive cells from peripheral blood was approximately 95% whereas peripheral blood mononuclear cells contained only 0.1% PCLP1+ cells. Umbilical cord blood was demonstrated to be a better source for PCLP1+ cells than peripheral blood. These results suggest that the separation of human PCLP1+ cells using BacMPs with anti-hPCLP1 were extremely effective and may be useful as a means to prepare human hematopoietic progenitor cells.
Subject(s)
Hematopoietic Stem Cells/immunology , Immunomagnetic Separation/methods , Sialoglycoproteins/blood , Sialoglycoproteins/immunology , Animals , Antibodies, Monoclonal/metabolism , Cell Line , Fetal Blood/chemistry , Flow Cytometry , Hematopoietic Stem Cells/chemistry , Hematopoietic Stem Cells/cytology , Humans , Magnetospirillum/metabolism , Mice , Mice, Inbred BALB C , Nanoparticles/chemistry , Sialoglycoproteins/isolation & purification , Staphylococcal Protein A/immunologyABSTRACT
Although in 1969, rice pollen was first reported as a cause of asthma, rice pollen allergy has not been studied after the first report and thus the allergic significance of rice pollen is not well recognized at present. We investigated the sensitization to various allergens and the residential areas in children with the symptoms of asthma or rhinoconjunctivitis during the first decade of August, and measured rice pollen-specific IgE antibodies. Eighty-eight children (57 boys and 31 girls, mean age 8.5+/-2.9 years) with bronchial asthma or allergic rhinitis/conjunctivitis were included in this study and divided into two groups: children with (n=21) or without (n=67) symptoms during this period. The positivity rate to orchard grass pollen and the rate of residence in the surrounding area of rice field were high (81%, P=0.008 and 86%, P<0.001, respectively) in children with allergic symptoms, as compared to the values (48% and 27%, respectively) in children without symptoms. As the rice pollen season in Nagano occurs in the first decade of August, we measured rice pollen-specific IgE antibodies in 8 patients with symptoms during this period; all of these patients showed positive IgE antibodies to rice pollen. The RAST-inhibition assay using orchard grass and rice pollen indicated cross-allergenecity between these two pollen and also the existence of rice pollen-specific allergens. These results suggest that rice pollen induces seasonal asthma and allergic rhinoconjunctivitis during the first decade of August, which is the rice pollen season, in the surrounding area of rice fields.
