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Biomedical subjects

M Osame

Publications and source records attributed to M Osame.

At least 505 records · Page 28Linked to original sources
PubMed1985

Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.

Neutral oligosaccharides were isolated from urine of an adult patient with glycogen storage disease type II, a deficiency of lysosomal acid alpha-glucosidase, by chromatography on columns of activated charcoal, Dowex 50 X 2 and Dowex 1 X 2. Total neutral oligosaccharides in the urine of the patient were increased about 5-fold as compared with those in normal controls. The most accumulated oligosaccharide was separated by Bio-Gel P-2 column chromatography, and finally purified by paper chromatography. Based on various studies, including carbohydrate analysis, chemical ionization mass spectrometry, fast atom bombardment mass spectrometry, degradation by glucoamylase and isopullulanase, and methylation analysis, the structure of this oligosaccharide was deduced to be Glc alpha 1----6Glc alpha 1----4Glc alpha 1----4Glc. This oligosaccharide appears to be accumulated in urine of the patient with acid alpha-glucosidase deficiency as an end product of the hydrolysis of glycogen.

Carbohydrate Sequence↗
PubMed1984

Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions.

We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.

Adolescent↗
PubMed1984

High CSF lactate and pyruvate content in Kearns-Sayre syndrome.

We studied lactate and pyruvate concentrations in CSF and blood of a patient with Kearns-Sayre syndrome (KSS), 3 patients with ocular myopathy and 11 normal control subjects. We found significant elevation of lactate and pyruvate in the CSF of the patient with KSS, suggesting a disorder of CNS lactate-pyruvate metabolism.

Adult↗
PubMed1983

Morphological study on the hereditary neurogenic amyotrophic dogs: accumulation of lipid compound-like structures in the lower motor neuron.

A morphological study was performed on hereditary neurogenic amyotrophic dogs, the clinical features of which especially resembled spinal progressive muscular atrophy (SPMA), a human motor neuron disease. The skeletal muscles showed obvious neurogenic atrophy with endomysial fibrosis. The peripheral nerves revealed axonal degeneration mainly limited to the motor nerve. In the spinal cord, the number of anterior horn cells seemed normal but, interestingly enough, numerous accumulated granules were detected in these anterior horn cells. Histochemically, these granules were interpreted as a lipid compound. Under the electron microscope, the granules were disclosed as multi-lamellar structures, arranged concentrically or in parallel, resembling membranous cytoplasmic bodies (MCBs) or zebra bodies. This finding strongly suggests that hereditary abnormality of lipid metabolism may underlie SPMA in these dogs. However, unlike other metabolic disorders where accumulations of granules are diffusely distributed, in the dogs we examined accumulations were found only in the anterior horn cells of the spinal cord and in the hypoglossal and spinal accessory nuclei. We are unable to explain this occurrence at the present time. Further investigations should be made on dogs because they serve as an important animal model of human motor neuron disease.

Animals↗
PubMed1983

Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.

Ten cases of myopathy caused by glycogen storage diseases of type II, III, and V, and phosphorylase b kinase deficiency are reported. So-called "abnormal lysosomes" or glycogenosomes which contain abundant glycogen were found in cases of type II, and in some numbers, in cases of type III, and in one case of phosphorylase b kinase deficiency which revealed a moderate decrease in debranching enzyme (amylo-1,6-glucosidase) activity. In these cases of type III and phosphorylase b kinase deficiency, the glycogenosomes are formed through deposition of abnormal glycogen (limit dextrin structure glycogen).

Adolescent↗
PubMed1983

Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.

Glycogen storage diseases of type I, II, III, IV, V and the other muscle types, were examined electron microscopically, biochemically and physicochemically. Glycogenosomes (glycogen containing vacuoles) were found in the affected tissues of type II, type III variant of muscle glycogen storage disease, type IV and muscle type phosphorylase b kinase deficiency (disorder of the phosphorylase b kinase activation mechanism). The acid alpha-glucosidase activity was decreased only in the case of type II glycogen storage disease (Pompe's disease). The other types of glycogen storage disease showed no decrease in acid alpha-glucosidase activity. Moreover, one patient with type II disease also revealed a decrease in neutral alpha-glucosidase activity. In all cases where glycogenosomes were found, the extracted glycogen macromolecules showed some molecular abnormality or deviation when compared with normal native glycogen macromolecules.

1,4-alpha-Glucan Branching Enzyme↗