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Biomedical subjects

F Endo

Publications and source records attributed to F Endo.

At least 145 records · Page 8Linked to original sources
PubMed1989

Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.

Pyruvate dehydrogenase complex was studied using bio- and immunochemical methods in cultured cells derived from two patients with the severe type and one patient with the mild type of pyruvate dehydrogenase complex deficiency. In patients 1 and 2, enzyme activity was all but undetectable and associated with the absence of E1 alpha subunit of the complex. Patient 3 had a slightly reduced level of enzyme activity, and this was associated with a larger form of E1 alpha subunit. The amount and size of E1 alpha mRNA in the three patients was similar to that of control samples. Thus, the severity of E1 alpha deficiency in these three patients is likely to depend on the type of mutation in the pyruvate dehydrogenase E1 alpha subunit and the synthesis and degradation rate of the subunit.

Cells, Cultured↗
PubMed1989

Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia.

The biochemical nature of the pyruvate dehydrogenase complex (PDHC) in muscle was studied in a patient with pyruvate dehydrogenase complex deficiency. The enzyme activity was approximately 30% of the control level and the apparent Km value of the enzyme was similar to the control value. The immunoblot pattern of each subunit protein, E1 alpha, E1 beta, the component X, E2 and E3, was comparable to that of the control on both one- and two-dimensional electrophoresis, the staining of each subunit protein being reduced in intensity, corresponding to the reduced enzyme activity. The enzyme deficiency is likely to be quantitative rather than qualitative, although the actual mechanism is unknown.

Acidosis, Lactic↗
PubMed1989

[A case of breast cancer with multiple bone metastases effectively treated with UFT and tamoxifen].

A 51-year-old female with advanced breast cancer involving multiple bone metastases was daily administered 400 mg of UFT and 20 mg of tamoxifen. X-ray examination revealed remarkable osteosclerosis. Laboratory data revealed a high serum alkali phosphatase level of 820 mU/ml(at 3 months), which gradually decreased to 274 mU/ml with pain relief at 11 months after the beginning of this chemotherapy.

Alkaline Phosphatase↗
PubMed1989

Relationship of milk intake and vitamin K supplementation to vitamin K status in newborns.

Vitamin K status was evaluated by measuring blood acarboxyprothrombin (PIVKA-II) levels on the fifth day of life. The incidence of PIVKA-II-positive infants was higher in breast-fed babies than in those given supplementary (mixed) feeding. The median of total amount of milk intake during the first 3 days was significantly lower in PIVKA-II-positive infants than in PIVKA-II-negative infants among infants given both types of feedings. In addition, there was a significant negative correlation between a positive PIVKA-II proportion and the amount of milk intake in the breast-fed babies. The minimum dose of vitamin K2 necessary to prevent a positive PIVKA-II reading was 15 micrograms among babies with a normal absorption potential.

Animals↗
PubMed1988

Immunoaffinity purification of human erythrocyte prolidase.

A procedure including immunoaffinity gel chromatography of an immobilized monoclonal antibody was used to isolate human erythrocyte prolidase (EC 3.4.13.9). The monoclonal antibody was developed against liver prolidase and the antibody recognized the erythrocyte enzyme. The purification procedure included three steps of DEAE cellulose (batcher), immunoaffinity gel chromatography and gel filtration column chromatography. The overall recovery was approximately 20% and the specific activity of the purified preparation was approximately 260 U/mg of protein, a value exceeding that obtained using conventional procedures.

Chromatography, Affinity↗
PubMed1988

Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birth.

Plasma vitamin K1 and proteins induced by vitamin K absence (PIVKA) were assayed simultaneously 1-4 days and 29-35 days after delivery in three groups of infants: breast-fed not receiving vitamin K at birth (n = 12), bottle-fed without vitamin K administration at birth (n = 7) and breast-fed receiving 1 mg vitamin K1 administered by intramuscular injection at birth (n = 13). The bottle-fed infants had a significantly higher vitamin K1 plasma level than breast-fed infants who did not receive vitamin K1 at birth. Extremely high levels of vitamin K were obtained 1-4 days after intramuscular administration. At the age of 1 month, breast-fed infants had the same plasma vitamin K1 concentration whether or not they had received vitamin K1 supplements. Decarboxy prothrombin (PIVKA-II) a reliable indicator of biochemical vitamin K deficiency, was found in 5 out of 12 breast-fed and in 2 out of 6 bottle-fed infants who had not received supplemental vitamin K1 after birth. In a separate study, we followed up to 90 days after birth a larger group if infants. PIVKA-II was found with significantly greater frequency in breast-fed infants receiving no vitamin K than in breast-fed infants receiving 1 mg vitamin K intramuscularly at birth, or in bottle-fed infants without extra vitamin K1. These data form a strong argument for routine vitamin K prophylaxis after birth for all breast-fed infants. The optimum dose and manner of administration require further study.

Biomarkers↗
PubMed1988

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Nine patients with maple syrup urine disease (MSUD), of whom eight were detected by mass-screening of neonates for inherited metabolic disease, were studied to determine possible relationships between clinical features and properties of the branched-chain alpha-keto acid dehydrogenase complex (BCKDH) in cultured lymphoblastoid cells. Based on their tolerance for leucine and on the clinical manifestations observed after 2 years of age, most could be classified into three types; classical (tolerate less than 600 mg of leucine per day, N = 2), intermediate (N = 3) and intermittent (N = 3) types. In the other patient two of these three phenotypes were present. The BCKDH activities measured at a lower alpha-ketoisovaleric acid concentration (0.054 mM) were 0.026 +/- 0.015 in classical, 0.118 +/- 0.016 in intermediate and 0.625 +/- 0.139 in intermittent types and 7.052 +/- 0.779 (nmol/h per milligram of protein) in two controls, respectively; the differences being statistically significant (P less than 0.01, classical vs intermediate types; P less than 0.01, intermediate vs intermittent types; P less than 0.01, intermittent vs control). Kinetic and immunochemical analyses of the BCKDH revealed that, although there are a few exceptions, classical, intermediate and intermittent types correspond to the enzyme properties of sigmoidal kinetics with E1 beta subunit deficiency, near-sigmoidal kinetics with E1 beta subunit deficiency and hyperbolic kinetics with E2 subunit deficiency of the BCKDH, respectively.

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)↗
PubMed1988

Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.

Two male siblings with medium-chain acyl-CoA dehydrogenase deficiency were reported, in whom the enzyme activity was essentially undetectable and the symptoms and signs, including cyanosis, apnea, low body temperature, hypoglycemia and hyperammonemia, appeared within 48 hours of life. Muscle weakness and cardiomegaly in association with morphological abnormalities of mitochondria in skeletal and cardiac muscles, respectively, were found on electron microscopic examination in one of them. These observations suggest that the patients suffered from the most severe form of the disease, which has not been described in the literature.

Acyl-CoA Dehydrogenases↗
PubMed1988

[Hypertyrosinemia].

Explore the source record for details and available documents.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

Vitamin K effect in low birth weight infants.

Factor II coagulant antigen (FII-AG), the protein induced by vitamin K absence or antagonist II (PIVKA-II), and coagulant activity (normotest) were measured in low birth weight infants. The factor II coagulant antigen and normotest levels in one-day-old babies were lower than those of full-term infants (P less than .005, P less than .01, respectively). Infants whose normotest levels were less than 30% at one day (group A) received vitamin K2, and the others whose normotest levels were greater than 30% at one day (group B) were not treated. At this time, the mean factor II coagulant antigen level was significantly lower in group A than in group B (P less than .05). During the first seven days of life, in 65.2% of the infants in group B the PIVKA-II level became positive, but this did not occur in any infant in group A. After vitamin K treatment, there was greater improvement in the normotest level in infants with positive PIVKA-II levels than in those with negative PIVKA-II levels. This observation indicates that the hypoprothrombinemia found in low birth weight infants at one day of age is attributable to reduced synthesis of factor II coagulant antigen in the liver at this stage, but the prophylactic administration of vitamin K seemed to be effective even in such infants, probably because of the increase in factor II coagulant antigen synthesis (P less than .001) during the first seven days of life.

Antigens↗