ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01240.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01241.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryA program of newborn mass screening for inborn errors of metabolism has since 1977 been conducted by The Ministry of Health and Welfare in Japan with great success in preventing mental and physical handicaps in children and estimating the incidence of these diseases in our country as follows: phenylketonuria (PKU) 1/78,100 maple syrup urine disease (MSUD) 1/281,200 histidinemia 1/10,600 galactosemia 1/156,200There are some genetic variants of each of these diseases, PKU, MSUD and others. Circumspection is therefore required in making a diagnosis or selecting a particular method of treatment. When MSUD is suspected, it is necessary to make a definite diagnosis promptly and take therapeutic measures including peritoneal dialysis.The efficacy of low histidine diet in histidinemia is not yet ascertained. Close inquiries should be made about the benefit of such a dietary regimen and the long term prognosis therewith. A screening test for homocystinuria by the detection of blood methionine level is difficult. In cases with high blood methionine level during the neonatal period, it is necessary to differentiate the condition from other disease with high blood methionine.Hepatorenal tyrosinemia appears to be unsuitable for mass screening because of the the unefficacy of low phenylalanine tyrosine diet in some of the patient and the difficulty to differentiate from transient tyrosinemia in normal newborn infants. However, mass‐screening is recommendable for Richner‐Hanhalt type tyrosinemia which responds well to dietary therapy and which is easy to differentiate from the transient tyrosinemia because of the marked elevation of blood tyros

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01242.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryThe present article deals with (1) the method of establishment of lymphoid cell lines from humans with the use of Epstein‐Barr virus and, (2) the advantages and limitation of their use in the study of human biochemical genetic

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01243.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryCultured lymphocytes with phytohemagglutinin (PHA) were used for samples of α‐galactosidase (α‐gal) assay. In control subjects α‐gal activity of cultured lymphocytes with PHA increased compared to that of uncultured or cultured lymphocytes without lectin. While the carrier females of Fabry's disease showed a slight decrease of α‐gal activity in cultured lymphocytes with PHA. Therefore, heterozygotes could be definitely distinguished from controls. Cultured lymphocytes with PHA were thought to be available for the detection of he

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01244.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryTwo methods of microdetermination, enzymatic cycling and microscopic fluorometry, have been applied for the diagnosis of lysosomal diseases. A new assay method of galactocerebrosidase was developed by using the NAD cycling procedure. It was reproducible and even more sensitive than the radioassay method currently in use, and the enzyme deficiency was confirmed in the tissues from two patients and a fetus with Krabbe's disease. A microassay method of lysosomal enzymes on single fibroblasts was also established by microscopic fluorometry. With this technique a successful result of prenatal diagnosis was reported on a high risk fetus for GM1‐gangliosidosis. The basic and clinical significance of these micromethods was discusse

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01245.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryEffects of the abnormalities of purine metabolism on the lymphocytes were studied. When the lymphocytes from the patients with Lesch‐Nyhan syndrome in which HGPRT is defective were analysed. Immunoglobulin production from B‐cells, mitotic response of T‐cells, functions of helper T‐cells and suppressor T‐cells were thought to be impared. Killer T‐cell function was seemed not very much affected. ADA deficiency produced by treating the lymphocytes with coformycin which specifically blocks the enzyme caused defective mitotic T‐cell response and decreased immunoglobulin production from B‐cells. Killer T‐cell and K‐cell functions showed

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01246.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryThe levels of lysosomal enzyme activities in human leukocyte subpopulations were examined, using 4‐methylumbelliferyl compounds. There were differences in the composition of the nine enzymes between lymphocytes and granulocytes; the enzyme levels, such as N‐acetyl‐β‐glucosaminidase, β‐galactosidase, β‐fucosidase in lymphocytes and α‐mannosidase, α‐galactosidase, a‐fucosidase in granulocytes, were significantly higher than the other, respectively (p<0.001–0.01).In contrast to cytochemical findings reported by others, the activities examined biochemically in non‐T lymphocytes showed relatively higher than those in T lymphocytes.These lysosomal enzyme levels in some pathologic states were of interest. In I‐cell disease, a low level of β‐galactosidase activity was consistent in lymphocyte and granulocyte of all three cases, but other enzymes showed differences among the cases and between the two types of leukocytes. The enzyme levels in granulocytes and lymphocytes of chronic granulomatous disease showed no significant difference from those of the controls. However, in Chediak‐Higashi syndrome, the activities of α‐mannosidase, α‐galactosidase and α‐fucosidase were low in the patient's granulocytes and the heterozygous granulocytes also showed abnormal enzyme levels such as acid phosphatase, aryl sulphatase and N‐acetyl‐β‐glucosaminidase. The leukemic blast cells showed different enzyme profiles between lymphocytic and myelocytic blast cells. The enzymes, such β‐galactosidase, α‐mannosidase in lymphocytic blasts and N‐acetyl‐β‐glucosaminidase in myelocytic blasts, provided t

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01247.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryWe have established the screening methods for PNP and ADA deficiencies and screened 41 immunodeficient patients since 1976. Two of 8 patients with combined immunodeficiency have been found to have ADA deficiency. They were the first and second cases in Japan.The second case with ADA deficiency, born of a second‐cousin marriage, was a 14‐month‐old boy when he was diagnosed as having variable type of combined immunodeficiency associated with ADA deficiency. His T‐cell function was impaired but immuno‐globulin titers were within normal range. His parents and five relatives including paternal grandfather, maternal grandmother, two maternal uncles and paternal aunt were shown to have reduced erythrocyte‐ADA activity. Their isozyme patterns were ADA 1–0.To characterize the heterozygous carrier, we used a new approach to analyze the ADA‐gene transmission. The theoretical values of the erythrocyte‐ADA activity obtained from the analysis were consistent with the measured ones.We propose that the heterozygous carriers of ADA deficiency must be determined not only by the assay of ADA activity but also by the analysis of the ADA

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01248.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SummaryTwo patients with Wiskott‐Aldrich syndrome were studied immunologically and biochemically. The same immunological abnormalities were found in these patients as described in the previous cases. Futher, the expression of IgG‐Fc receptor on the surface of monocytes was poor and anti‐D coated human erythrocytes were less phagocytized by these cells from the patients than by control cells. The hexokinase activity was low in mononuclear cells (30% of the control mean) but normal in erythrocytes. It was suggested that a disturbance of the energy metabolism may affect the antigen processing mechanism and the afferent limb of immunity in the immunocompetent cells in this di

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1981.tb01249.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY