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Biomedical subjects

K Oyanagi

Publications and source records attributed to K Oyanagi.

At least 127 records · Page 7Linked to original sources
PubMed1983

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both blood and cerebrospinal fluid and hyperalanaemia suggested an impairment of pyruvate oxidation. The enzyme activities of pyruvate carboxylase in both liver tissues and cultured skin fibroblasts of the patient revealed values of about 5% of controls. However, pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities in liver tissues were within normal limits. The patient had no response to administration of large doses of thiamine, lipoic acid and biotin, clinically and biochemically. A prenatal diagnosis was performed in the second pregnancy and the pyruvate carboxylase activities of the cultured amniotic fluid cells obtained by amniocentesis were within normal limits.

Acidosis↗
PubMed1983

Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.

A case of Leigh's syndrome (subacute necrotizing encephalomyelopathy, SNE), proven by autopsy, was reported. The persistent elevation of pyruvate and lactate in blood and hyperalanemia suggested an impairment of pyruvate oxidation, but the enzyme activities of pyruvate dehydrogenase (PDH) and pyruvate carboxylase (PC) in liver tissues of the patient revealed normal. It is postulated that Leigh's syndrome and both enzyme deficiencies are distinct entities.

Brain↗
PubMed1982

A new type of hypermethioninemia in neonates.

Eleven hypermethioninemic patients were found by mass screening tests of neonates. Three of these had persistent hypermethioninemia while in the others it was transient. Serum concentrations of methionine were constantly higher than those of controls, especially in the persistent group. The enzyme activities of methionine adenosyltransferase in the liver tissues of both groups of patients were within normal limits. Serum concentrations of total folate in the persistent group were strikingly elevated and fatty degeneration of the liver tissues was a constant feature. It improved after several months under a low-methionine diet. The hypermethioninemia reported here is not associated with any clinical or biochemical finding reported previously.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Uridine diphosphate galactose 4-epimerase deficiency.

A case of uridine diphosphate galactose (UDP-Gal) 4-epimerase deficiency was discovered by mass screening of newborn infants. UDP-Gal 4-epimerase activity of red blood cells from the patient was found to be remarkably low, i.e., 7.5% of the level in normal controls at comparable ages. The parents showed intermediate values between those of the patient and controls. The enzyme activity in a specimen of liver tissue obtained from the patient by needle biopsy revealed a normal value. Subsequently, two other families with the condition were found by mass screening and these individuals were found to be heterozygotes.

Carbohydrate Epimerases↗
PubMed1981

Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D.

A patient with vitamin D dependent rickets with decreased sensitivity to 1,25-Dihydroxyvitamin D was observed. She suffered from bone pain of two years duration beginning at 12 years of age and was found to be suffering from hypocalcemia, secondary hyperparathyroidism and osteomalacia. Laboratory findings revealed normal serum 25-hydroxyvitamin D (27 ng/ml) and markedly elevated serum 1,25-dihydroxy-vitamin D (131.9 pg/ml). The hypocalcemia was refractory in spite of administration of 25,000 units of vitamin D2, but therapy with high doses of oral la-hydroxyvitamin D3 resulted in significant elevation of the serum calcium level. The clinical findings and course of the patient's disease were quite different from those of other patients with vitamin D dependent rickets reported by other authors.

Adolescent↗
PubMed1981

Arthrogryposis multiplex congenita: an autopsy case of a fatal form.

A case of a severe and fatal form of arthrogryposis multiplex congenita with a full necropsy examination is presented in which the central nervous system and many muscles of the four extremities were examined histologically. The most striking feature was a great reduction in the muscular tissue of the limbs with a marked increase in the adipose tissue. The muscular changes were thought to be caused by neurogenic atrophy, and microscopy of the spinal cord revealed developmental abnormalities, including degenerative changes of the anterior horn cells. Neonatal and fatal cases of arthrogryposis multiplex congenita reported in the literature are briefly reviewed, and the characteristics of the present case and its relation to other congenital neuromuscular disorders are discussed.

Adipose Tissue↗
PubMed1981

Hexosaminidase C in brain affected by Tay-Sachs Disease.

Hexosaminidase (Hex) C could be detected in human brains by DEAE cellulose column chromatography, when N-acetyl-beta-D-glucosaminidase activity was determined at pH 5.5. In the chromatographic pattern, the peak of Hex C was always higher than that of Hex A in control prenatal brains and conversely lower in postnatal brains. Hex C was not detected in the brains obtained from two cases of Tay-Sachs disease. In addition, the content of Hex C in the brains of two other Tay-Sachs cases was lower than that of the control. The observation suggests that the absence or reduction of Hex C may have some relation with biochemical defects in Tay-Sachs disease, although Hex C does not share common subunit structures with Hex A and the role of Hex C with respect to GM2-ganglioside degradation remains unknown yet.

Brain↗
PubMed1981

Acidic glycosaminoglycans in liver from five patients with mucopolysaccharidosis and mucolipidosis.

Content, composition and molecular weight distribution of acidic glycosaminoglycans (GAGs) were determined in liver from five patients with genetic lysosomal storage diseases (Hurler syndrome, Hunter syndrome of severe type, Morquio syndrome, GM1-gangliosidosis type II and I-cell disease). There was a 30- to 40-fold increase in GAGs content of liver from patients with Hurler and Hunter syndromes. The GAGs accumulated in the livers consisted mainly of heparan sulfate and dermatan sulfate, and had a much lower molecular weight than those from control liver. The major GAG accumulated in liver from Morquio syndrome was keratan sulfate, which was not found in the livers from control and other patients, and chondroitin-6-sulfate was also increased. The content and the composition of liver GAGs from GM1-gangliosidosis and I-cell disease were similar to those of control liver. However, there was about a 33-fold increase in the amount of hexose on the liver GAGs from GM1-gangliosidosis. A molar ratio of sialic acid to hexosamine was 1.35 for the liver GAGs from I-cell disease and that of hexose to hexosamine was 8.47, while they were 0.46 and 2.32, respectively, for the control liver.

Adolescent↗
PubMed1981

A new transport interaction of dibasic amino acids and citrulline in human kidney.

The oral loading tests of lysine in 9 healthy men and the intravenous loading tests of lysine, ornithine and arginine in 3 healthy men were carried out. The results indicated that the membrane transport system of citrulline in the human kidney was clearly inhibited by dibasic amino acids, lysine, ornithine, and arginine.

Amino Acids↗
PubMed1980

A study of urea-synthesizing enzymes in prenatal and postnatal human liver.

The urea-synthesizing enzymes of human liver tissues, namely, carbamylphosphate synthetase (CPS, EC 2.7.2.2), ornithine transcarbamylase (OTC, EC 2.1.3.3), arginine synthetase system, argininosuccinase (ASase, EC 4.3.2.1), and arginase (EC 3.5.3.1) were measured between pre- and postnatal periods. Specimens from 67 autopsied human livers obtained from fetuses, premature infants, newborn infants, infants, children, and adults were examined. The mean activities of the enzymes showed an increased pattern for OTC and arginase at fetal life, whereas those of CPS, arginine synthetase system, and ASase of fetal livers showed no significant difference in each stage. Except for arginase, the other four enzyme activities were higher in the postnatal period than those in the fetal life. Arginase activities indicated maximal increase at a gestational age between 28 and 31 weeks and decreased in the postnatal life.

Adult↗
PubMed1980

Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide.

Using 4-methylumbelliferyl-alpha-L-iduronide as a substrate, alpha-L-iduronidase activity was measured in leukocytes and in lymphoblastoid cells obtained from patients with alpha-L-iduronidase deficiency and from obligate heterozygotes for this disease. There was complete discrimination between alpha-L-iduronide in leukocytes and in lymphoblastoid cells from the patients and controls. However, overlap was observed between values of the activity in the obligate heterozygotes and those in the controls. 4-Methylumbelliferyl-alpha-L-iduronidase activity because of greater sensitivity, easier assay procedure and shorter incubation period.

Female↗
PubMed1980

Activities of N-acetylgalactosamine-6-sulfate sulfatase in liver from two sisters with morquio syndrome.

A 6-sulfated tetrasaccharide obtained by digesting chondroitin-6-sulfate with testicular hyaluronidase was used as a substrate for the determination of N-acetylgalactosamine-6-sulfate sulfatase activity. The activity was not detected in liver obtained from the elder sister with clinically classic Morquio syndrome and 4.7% of the control in liver from the younger sister with the same disease.

Adolescent↗
PubMed1980

An altered hexosaminidase A in the liver affected by Hurler and Hunter syndromes.

Total hexosaminidase (Hex) in the liver obtained from Hurler and Hunter syndromes displayed about ten times higher activity than that in control liver and moreover, its thermostability was significantly increased. On DEAE cellulose column chromatography, Hex A in the liver of those patients was eluted at much higher salt concentration than that required for elution of Hex A from control liver. There was no difference in elution patterns of Sephadex G-200 and Concanavalin A-Sepharose column chromatographies between the altered Hex A and control Hex A. It appears that the glycosaminoglycans accumulating in the liver of those patients are partly bound to Hex A, and that this binding may cause some changes of its properties such as ionic charge and thermostability.

Adolescent↗
PubMed1979

Neuraminidase activity in liver and brain from patients with I-cell disease.

The activity of neuraminidase in liver and brain from I-cell disease (Mucolipidosis II) was investigated. Neuraminidase activities using two substrates [alpha-L-N-acetylneuraminosyl(2 leads to 3)lactose and alpha-L-N-acetylneuraminosyl(2 leads to 6)lactose] were reduced in the supernatant and sedimentable fractions obtained in isotonic KCl. The activity of beta-D-galactosidase was also reduced in the liver; on the other hand, both neuraminidase fractions were normal, although beta-galactosidase activities were markedly reduced. In view of these results, it is suggested that the defect of neuraminidase is not directly responsible for the primary etiology of I-cell disease.

Brain↗