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PubMedDate not supplied

Determination of liver microsomal glucose-6-phosphatase.

A procedure for the determination of liver microsomal glucose-6-phosphatase is described. Homogenization and ultracentrifrigation were used to prepare a precipitate whose character was defined by monitoring the desire enzyme activity which serves as a marker. Activity of the enzyme was determined by means of a sensitive colorimetric reaction for the product, inorganic phosphate. Non-enzymatic hydrolysis problems with the substrate are minimized in this procedure by the masking action of citrate. The final heteropoly blue color appears to be considerably sensitized by interaction of phosphomolybdous ion with arsenite. The stability of the relatively labile enzyme was ensured by chelating any metals present with ethylene diamine tetraacetic acid. The overall results obtained by the procedure appear to be useful as an aid in the diagnosis of Type I glycogenosis, a glycogen storage disease called Von Gierke's disease.

Colorimetry↗
PubMed1990

Ground-glass hepatocytes: light and electron microscopy. Characterization of the different types.

Morphological observations of paraffin-embedded histological sections stained with H&E led to the discovery of some cytoplasmic changes which occur in different conditions, although they look alike under the light microscope. These hepatocytic changes consisted basically of homogeneous areas which are weakly eosinophilic in H&E-stained sections. They are frequently referred to as "inclusion" bodies, even when they are not true inclusions. The hepatocytic changes observed in HBsAg carriers, in chronic alcoholic patients treated with cyanamide to discourage them from drinking alcohol, in Lafora's disease, and in glycogenosis type IV, look very similar in paraffin sections stained with H&E. Nevertheless, they can be differentiated using ancillary techniques. On electron microscopy they do not look alike. Of particular interest are the "inclusion" bodies induced by cyanamide, a predictable and reproductible lesion, which in man eventually leads to cirrhosis. Other types of hepatocytic changes also giving a rather vague "ground-glass" appearance to the cytoplasm are those resulting from intracytoplasmic accumulation of proteins, particularly fibrinogen, and those observed in patients treated with different drugs.

Cyanamide↗
PubMed1977

[The clinical picture of lactate acidosis. 5. Lactatemia without acidosis. Conclusions].

Several inherited metabolic diseases are accompanied by a greater or lesser increase in blood lactate concentration under certain metabolic conditions. These diseases are glycogenosis type I (glocuse-6-phosphate deficiency), fructose-1,6-diphosphatase deficiency, glucose-induced hyperlactate emia, idiopathic lactate acidosis. The conditions are discussed when hyperlactate emia develops. Very large increases in blood lactate concentration are found during muscular activity, lactate concentrations can be as much as 20 mmol/l under these conditions. Regarding these values, the increase in blood lactate concentration during intravenous carbohydrate infusion is minimum, even in the case of fructose infusions (1-4 mmol/l). Therapeutical measures for treatment of increased lactate concentration are discussed. A causal therapy is optimum; however, the precondition is a definite diagnosis. Besides bicarbonate infusions (or infusions of other alkalizing substances) dialysis seems to be a favourable therapy in certain cases. In future, prognosis of lactate emia should be better if the diagnostic measures and differential diagnosis are improved.

Acidosis↗
PubMed1990

[Hypoplasia of tooth in children with inborn errors of metabolism].

For the investigation of the clinical dental manifestations of inborn errors of metabolism, the oral examination of twenty one children aged from 5 months to 15 years 5 months was performed at the pediatric clinic of inborn errors of metabolism. The results were as follows: 1. In six of seven histidinemia patients, white spots, pit or hypoplasia of enamel, fused teeth, peg teeth or abnormal tubercles were observed. 2. In a patient with GM1-gangliosidosis, the upper and lower central incisors had severe white spots. 3. In one patient with osteopetrosis, one of two glycogenosis type IX and one of two homocystinuria patients, white spots or hypoplasia of enamel were observed. 4. One patient with hypophosphatemic vitamin D-resistant ricket, one with vitamin D-dependent ricket type II and one with galactosemia patient had no enamel hypoplasia. It was strongly suggested that there is a specific relationship of histidinemia and GM1-gangliosidosis to dental manifestations.

Adolescent↗
PubMed1990

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

The genetic defect in muscle phosphofructokinase deficiency (type VII glycogenosis, Tarui disease) was investigated. Six cDNAs for muscle phosphofructokinase, including a full-length clone, were isolated from a non-amplified library of muscle from a patient. By sequence analysis of these clones, a 75-base in-frame deletion was identified. The rest of the sequence was identical to that of the normal cDNA, except for a silent base transition at position 516 (ACT (Thr) to ACC (Thr]. The deletion was located in the 3'-terminal region of exon 13 (numbered with reference to the rabbit muscle phosphofructokinase gene (Lee, C.-P., Kao, M.-C., French, B.A., Putney, S.D., and Chang, S.H. (1987) J. Biol. Chem. 262, 4195-4199]. Genomic DNA of the patient was amplified by polymerase chain reaction. Sequence analysis of the amplified DNA revealed a point mutation from G to T at the 5'-end of intron 13. This mutation changed the normal 5'-splice site of CAG:GTATGG to CAG:TTATGG. A cryptic splice site of ACT:GTGAGG located 75 bases upstream from the normal splice site was recognized and spliced in the patient.

Base Sequence↗
PubMed1990

[Phosphorus NMR spectroscopy. Its value in the diagnosis of metabolic myopathies. A case of Mac Ardle's disease].

Phosphorus nuclear magnetic resonance spectroscopy is a non-invasive method used to study muscle bioenergetics in vivo. A new case of Mc Ardle's disease (myophosphorylase deficiency) is reported here. In a context of metabolic myopathy this method can provide a diagnosis of glycogenosis. The spectra obtained at exercise and during recovery determine the degree of enzyme deficiency with satisfactory precision.

Adult↗
PubMed1990

[A case of glycogen storage myopathy with acute heart failure].

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.

Acute Disease↗
PubMed1989

Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 patients with type IV glycogen storage disease who are known to us have succumbed at a very early age, with the exception of one male teenager, an apparently healthy 7-year-old male, and several 5-year-old patients. Fourteen pregnancies at risk for branching enzyme deficiency have been monitored using cultured amniotic fluid cells, and four additional pregnancies have been screened using cultured chorionic villi. Essentially no branching enzyme activity was detectable in eight samples (amniocytes); activities within the control range were found in five samples (three amniocyte and two chorionic villi samples); and five samples appeared to have been derived from carriers. In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured from the aborted fetuses, no branching enzyme activity was found. Another fetus, which was predicted by antenatal assay to be affected, was carried to term. Skin fibroblasts from this baby were deficient in branching enzyme. Pregnancies at risk for glycogen storage disease due to the deficiency of branching enzyme can be successfully monitored using either cultured chorionic villi or amniocytes.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1989

Growth hormone therapy in short children without classical growth hormone deficiency.

The spontaneous secretion of GH which determines the growth in height as well as the GH increment in the provocation tests (the socalled pituitary reserve) is diminished in pituitary dwarfism. In numerous other growth disorders only the spontaneous GH secretion is impaired. Amongst others this is true of the syndrome of constitutional delay of growth and adolescence which is the most frequent growth disorder in childhood and of the growth retardation after X-ray irradiation of the skull. In all these cases treatment by hGH represents replacement therapy. In children with intrauterine growth retardation, familial short stature and skeletal dysplasias growth hormone deficiency cannot be proved. In most cases the growth velocity cannot be accelerated with hGH in the usual replacement doses. High doses of hGH may be successful. In endogenous and exogenous hypercortisolism the spontaneous GH secretion is suppressed and the effect of the somatomedins on the growing cartilage is inhibited. This is not only true of Cushing's Syndrome and corticosteroid therapy but also of cases of glycogenosis Type I. The resulting growth retardation can - at least partly - be overcome with hGH. Preliminary investigations show that the growth retardation in children with chronic renal failure can successfully be treated by hGH.

Child↗
PubMedDate not supplied

[Glycogen disease caused by disorders in the liver phosphorylase system].

Concentration of glycogen and activity of enzymes, participating in its metabolism, were studied in punctates of liver tissue obtained from three patients with clinical manifestations of hepatic forms of glycogenosis. Accumulation of glycogen in liver tissue of the patients was caused by distinct decrease in the phosphorylase activity. In two patients low activity of phosphorylase A was due to impairment of one of the enzymes, activating the phosphorylase in liver tissue, and in one patient phosphorylase B itself exhibited low activity. The in vitro data on glycogen metabolism were correlated with those, obtained in study of glycogen turnover in vivo, after loading with adrenaline. The data obtained enable to develop methods for treatment of the patients with impairments in activity of liver phosphorylase.

Child, Preschool↗
PubMed1988

[Hypoglycemias in childhood. Pathophysiologic reflections and examples of hypoglycemias in hereditary disorders of carbohydrate metabolism].

For the understanding and interpretation of hypoglycemia it is important to know the many complex endocrine and metabolic regulations in the homoeostasis of blood glucose. Glucose-absorption, distribution and availability, glycolysis, production and utilization of glycogen as well as gluconeogenesis are important steps of this homoeostasis, and hypoglycemia always reflects a disturbance in it. When blood glucose is low the availability of energy for the brain is decreased if no alternative energy sources like lactate or ketones are provided. Hypoglycemia is more often in the neonatal period than in later childhood. The causes can be divided into different groups according to pathogenetic mechanisms. Within each group again many singular defects are known. Fructose-1,6-diphosphatase deficiency, hereditary fructose intolerance, glycogenosis type I and so called "ketotic hypoglycemia" are given as examples to elucidate special clinical and biochemical aspects of inborn errors of carbohydrate metabolism.

Blood Glucose↗
PubMedDate not supplied

[Hepatic glycogenoses. Introduction].

Liver glycogenosis (GSD) are hereditary in diseases caused by deficiencies of the three major enzymatic systems involved degradation of glycogen: glucose-6-phosphatase (GSD VI). The aims of this paper are, in a first part, to summarize the biological and physiological aspects of these disorders in order to propose an update diagnostic process, and, in a second part, to point out the clinical features and the possible evolution of such patients becoming adults, according to the French experience.

Glycogen Storage Disease↗
PubMedDate not supplied

[Biological and physiopathological aspects of hepatic glycogenoses].

Liver glycogenosis (GSD) are hereditary diseases caused by deficiencies of the three major enzymatic systems involved in glycogenolysis: glucose-6-phosphatase (GSD I), debranching enzyme (GSD III) and phosphorylase system (GSD VI). Biological and physiopathological aspects of these disorders are described. An up to date diagnostic process which includes measurement of glycogen and enzymatic activities, in the most appropriate tissue material, is proposed.

Glycogen Storage Disease↗
PubMed1987

McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues.

We have cloned the cDNA encoding human liver glycogen phosphorylase (glycogenosis type VI) from a fetal brain cDNA library. Liver(L) and muscle(M) phosphorylase cDNA probes were used to determine the relative abundance of mRNA encoding the L- and M-isozymes of phosphorylase in human fetal and adult tissues. The transcript encoding the M-isozyme is 3.4 kb; the L-isozyme transcript is 3.3 kb. Transcriptional expression of the L-isozyme in human and primate tissues was found to differ from the isozyme's reported tissue specificity in non-primate mammals. Furthermore, using degenerate oligonucleotide probes to two different coding regions of M-phosphorylase, a novel 4.1-kb transcript was demonstrated to be present in human fetal and adult brain.

Amino Acid Sequence↗
PubMed1986

Modulation of carbohydrate metabolism during carcinogenesis.

Investigations in a number of experimental models and some observations in humans have indicated that changes in carbohydrate metabolism precede the development of many tumor types and appear to be closely associated, if not causally related, to neoplastic cell transformation. Thus, a decrease or increase of many enzymes (including those of the carbohydrate metabolism) and/or a transient excessive storage of polysaccharides (glycogenosis, mucopolysaccharidosis) or lipids (lipidosis) was demonstrated by cytochemical and biochemical methods during carcinogenesis induced by chemicals in liver, pancreas, colon, kidney, and brain. The results suggest that an ordered pattern of metabolic and morphologic changes occurs during neoplastic cell transformation. Apparently, an increase in the flux of certain metabolic pathways such as the hexose-monophosphate shunt and glycolysis develops during transformation of many cell types. This metabolic aberration is conventionally explained as a consequence of a higher metabolic requirement. However, it is conceivable that during neoplastic cell transformation certain metabolites are accumulated in unphysiologically high concentrations (especially intermediates of glucose metabolism) and thereby force the cell to activate alternative metabolic pathways.

Animals↗
PubMed1987

Hepatic adenomata in type Ia glycogen storage disease.

Liver adenomata are common in young adults and adults with type Ia glycogen storage disease. Complications that may arise in these patients include acute hemorrhage and malignant transformation. With appropriate dietary therapy, they may partially or completely regress. We describe a young woman with type Ia glycogenosis who developed liver adenomata. Because of its persistence and the significant potential of malignant transformation, liver transplantation was performed. This case is discussed in light of a review of the literature on the subject.

Adenoma↗
PubMed1987

Animal models utilized in research on muscular diseases in Japan.

A comparative study of human and animal muscular dystrophies revealed a number of differences in clinical symptoms and muscle pathology. In chicken muscular dystrophy (line 413), the white muscle was preferentially involved with striking vacuole formation in the sarcoplasm. Despite massive muscle fiber necrosis with phagocytosis which occurred in large groups in both hamsters (BIO 14.6) and mdx mouse dystrophies, the regenerating process compensated for the muscle fiber degeneration and resulted in no apparent clinical symptoms. Although the overall muscle pathology in dy mice (C57BL6J/dy+/dy+) including variation in fiber size, active fiber necrosis, interstitial fibrosis and progressive fatal course were very similar to those in human muscular dystrophy, dysmyelination at the anterior spinal roots in the mouse suggested the coexistence of neuropathic processes, which was probably involved in inducing muscle atrophy and weakness. A Japanese quail with slowly progressive muscle weakness was assumed to be a very important animal model for the adult onset type of human type II glycogenosis because there were very close morphological and biochemical similarities between the two species.

Animals↗
PubMedDate not supplied

Pathology of diethylnitrosamine toxicity in the fish Rivulus marmoratus.

Rivulus marmoratus were exposed to 0, 10, 21, 45, 95, or 200 mg/liter diethylnitrosamine (DEN) for 6 weeks and examined 12 weeks after the end of exposure. Fatty change, hepatocellular glycogenosis, multiple basophilic foci, enlarged and distorted cells with or without an enlarged nucleus, and hyaline bodies and cytological alterations observed after exposure to DEN. Hemangiomas, cholangiomas, biliary cystadenomas, and glandular, trabecular and anaplastic hepatocellular carcinomas were observed at the 18th week. Only those fish exposed to 95 mg/liter DEN had cavernous hemangiomas and peliosis-like lesions, which could be a preneoplastic lesion preceding cavernous hemangiomas. Adenomatous hyperplasia of thyroid and granulomas were other chronic reactions caused by DEN toxicosis.

Animals↗