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PubMed1984

Diagnosis of neurometabolic disorders by examination of skin biopsies and lymphocytes.

Morphologic diagnosis of many neurometabolic storage diseases can be achieved by electron microscopic examination of skin biopsies and/or peripheral lymphocytes. Pathognomonic inclusions of specific shape allow accurate diagnosis in ceroid neuronal lipofuscinosis, generalized glycogenosis, Tangier disease, metachromatic and globoid leukodystrophy, and sometimes in adrenoleukodystrophy. Vacuolation of cells and membranous cytoplasmic and zebra bodies, while not specific for individual diseases, still indicate the presence of one of a limited group of disorders. This method is especially useful in those inborn errors of metabolism for which biochemical tests are not available.

Brain Diseases, Metabolic↗
PubMed1984

Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers.

Infantile acid maltase deficiency (Pompe's disease, glycogenosis II) is a progressive, severe lysosomal storage disease in which skeletal and cardiac muscle fibers accumulate membrane-bound and free glycogen and are destroyed. New information in this report concerns 1) early hypertrophy of skeletal muscle fibers, 2) absence of size change as glycogen is lost, and 3) the ultrastructure of end-stage fibers empty of glycogen. Muscle fibers enlarge as they accumulate glycogen and then stay large as glycogen is lost. They are so large that, if empty fibers did in fact contain glycogen, over 80% of the muscle would be glycogen instead of 6.3-11.5% (from 37 published determinations). Fibers that have reached "empty" end-stage are shown to be more numerous than all other stages combined in biopsies from infantile acid maltase deficiency. Ultrastructurally, end-stage fibers contain much "empty" space (liquid-filled without fine structure) and various remnants and masses of altered myofibrillar and sarcoplasmic material. Many broken membranes originally enclosing glycogen in storage lysosomes are seen. A single broken membrane can enclose an area larger than the cross section area of a muscle fiber from a normal infant. The results support the proposal of Hers that the disease is due to a deficiency of the single lysosomal enzyme acid maltase. The results also support the lysosomal rupture hypothesis of Griffin, which accounts for muscle fibers being more damaged than are other cells and for the release of glycogen to the sarcoplasm.

Glucan 1,4-alpha-Glucosidase↗
PubMed1983

Isozymes of human phosphofructokinase: biochemical and genetic aspects.

Human PFK is under the control of three structural loci that encode muscle-type (M), liver-type (L), and platelet-type (P) subunits. These loci are differentially expressed in various human tissues, resulting in a tissue-specific isozyme distribution patterns. Random tetramerization of these subunits produces various homotetrameric and heterotetrameric isozymes distinguishable by ion-exchange chromatography and subunit-specific mouse monoclonal antibodies. Inherited PFK deficiency is associated with five clinically and biochemically identifiable groups. The largest and best defined of these consists of the patients with glycogenosis type VII (group I). This syndrome results from a total deficiency of the catalytically active M subunit; the molecular pathology of the other four syndromes remains to be elucidated. Subunit- and species-specific hybridoma antibodies to the PFK subunits have permitted not only precise immunochemical analysis of this complex isozyme system, but also chromosomal localization of the PFK loci. In addition, immunochemical homologies among vertebrate PFKs determined using monoclonal antibodies suggest both an ancient duplication of the ancestral PFK gene and the structural conservatism of vertebrate PFK subunits despite this early divergence. Using somatic cell hybrids and subunit-specific antibodies, the PFKM, PFKP, and PFKL loci have been assigned to chromosomes I (region cen leads to q32), 10p and 21, respectively. The localization of PFKL to chromosome 21 and the chromatographic demonstration of a specific increase in the L subunit in red cells from trisomy 21 individuals has thus resolved the controversy about whether the previously observed elevation in PFK activity in Down syndrome represented a gene dosage effect. PFK exhibits both quantitative increases and isozymic shifts secondary to the altered gene expression in neoplasia. Since these alterations are correlated with the rate of growth and not the cell type of origin, PFK appears to be not only a transformation-linked but also a progression-linked discriminant of malignancy.

Antibodies, Monoclonal↗
PubMed1980

Inhibition of the glycogen phosphorylase system during ochratoxicosis in chickens.

Graded doses of ochratoxin A incorporated into the diet (0, 0.5, 1.0, 2.0, 4.0, and 8.0 micrograms/g) of broiler chickens significantly (P < 0.05) inhibited activity of protein kinase, the initiator enzyme of the glycogen phosphorylase system, in the livers at all dose levels. Only the highest dose, 8.0 micrograms/g, significantly reduced the total activity of phosphorylase kinase, which is activated by protein kinase. The total activity of phosphorylase, which is activated by phosphorylase kinase, was unaltered by ochratoxin A at any level. Additon of ochratoxin A to liver extracts control birds inhibited protein kinase but not phosphorylase kinase. When added to extracts of livers from control birds, cyclic adenosine 3',5'-monophosphate stimulated protein kinase but not phosphorylase kinase. The cyclic adenosine 3',5'-monophosphate had no effect when added to extracts from birds fed ochratoxin A. These results suggest that ochratoxin A affects primarily the cyclic adenosine 3',5'-monophosphate-dependent protein kinase which initiates the enzymatic cascade leading to glycogenolysis. Furthermore, these results conform an earlier assignment on morphological criteria of the glycogenosis of ochratoxicosis as a type X glycogen storage disease.

Animals↗
PubMed1980

[Interest of ultrastructural study of skin and muscle biopsies in inborn storage diseases. A report of 18 cases (author's transl)].

Skin and muscle biopsies were performed in 18 patients affected by various inborn storage disorders: mucopolysaccharidosis (MPS), sphingolipidosis, GM1 gangliosidosis, I-cell disease, ceroid-lipofuscinosis (CLF), adrenoleucodystrophy (ALD) and glycogenosis. In most cases, cutaneous and muscle biopsies demonstrate clearly the presence of storage inclusions in different cell types with great reproducibility and sometimes a specificity for a particular disease. Thus, electron microscopic examinations of skin and muscle, often complementary, can given valuable informations at two levels: - either a morphological confirmation depending on the type of the storage disease: e. g. clear, granular and fuzzy inclusions identified with mucopolysaccharidic material, lamellar and pseudomyelinic figures corresponding to lipidic structures are found in different cell types in MPS, gangliosidosis and sphingolipidosis; - or a diagnostic proof of some lysosomal diseases where there are very specific ultrastructural features such as the curvilinear bodies and fingerprint profiles in CLF or the spicular inclusions in ALD. These informations are the more important as the enzymatic defect is unknown in these inherited disorders. We conclude that the ultrastructural examination of a skin and muscle biopsy are an important tool for the diagnosis of a lysosomal storage disease which avoids any more difficult biopsies as brain, kidney, liver.

Adolescent↗
PubMed1983

Influence of bromocriptine on glucose-3-H3 metabolism in vivo.

The dopaminergic agonist Bromocriptine has been perfused in vivo in normal Wistar rats to control its activity on Glucose-3-H3 metabolism. Bromocriptine shows a rapid influence on glucose production rate (Ra) and glucose utilization rate (Rd). Both rates increase, but since Bromocriptine effects on glucose production rate is more significant than the ones on glucose utilization, the final results is an increase in plasma glucose levels. Since glucose production rate in normal animals is practically equal to hepatic glucose output, the most logical explantation of Bromocriptine activity is the activation of glycogenosis with a rise of plasma glucose levels.

Animals↗
PubMed1980

[Pediatric renal transplantation in Toulouse (author's transl)].

The regional group of renal transplantation in Toulouse includes a medico-surgical team which participates to all the activities of this group. Dialysis and transplantation are covered in a center organized for the care of children. This branch is part of the Regional Hospital. From 15 years old on patients are moved from the pediatric branch to the medico-surgical center taking care of adults. Both teams within the regional hospital share the responsability of taking off kidneys from cadaveric donors and collaborate to France-Transplant and Euro-Transplant. Since the pediatric center in charge of renal failure has opened, 32 children underwent chronic hemodialysis. Some of these patients are presently treated in the center for adults. Fourteen children were grafted and seven are at this moment waiting to receive transplantation. The average number of transplantations per year is from 1 to 4. These fourteen children underwent renal transplantation with kidneys from cadaveric donors. Only one has been provided by Toulouse. Diuresis resumed immediately in 8 cases, later in 5. An extremely acute reject was observed in one case and transplantectomy had to be performed 10 days after transplantation. Eight children presented acute reversible reject which, for 4 of them, evoluated towards chronicle reject. Eight children presented a chronicle reject: 4 of them are again in dialysis. Altogether 8 kidneys are functioning (seven years in the longest case). Five children resumed chronic dialysis. One patient died of acute pancreatitis. He underwent a portocaval shunt for type I glycogenosis which ended in a hyperuricemic nephropathy evoluating towards renal failure forcing a transplantation. The rehabilitation of transplanted children was always satisfactory.

Adolescent↗
PubMed1995

Surgical treatment of myogenic blepharoptosis.

We describe the surgical approach of two patients with myogenic blepharoptosis. The ptosis is caused by a glycogenosis type II (Pompe disease) in the first case and is due to a juvenile, chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) in the second case. The first patient presented a unilateral ptosis. The ptosis in the second patient was bilateral and manifest. The eyelids could only be opened manually. A resection of the palpebral levator muscle was carried out under local anesthesia. The choice of the technique will be explained. The amount of levator resection was calculated considering the residual eyelid motility and Bell's phenomenon. Electronmicroscopy of the resected levator muscle will be discussed.

Adult↗
PubMed1995

Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.

X-linked liver glycogenosis (XLG) due to liver phosphorylase kinase (PHK) deficiency is the most frequent liver glycogen storage disease. The affected patients present in early childhood with hepatomegaly and growth retardation. We isolated and determined the structure of human liver alpha subunit of PHK (PHKA2) cDNA. The 3705 base pair open reading frame encodes a polypeptide of 1235 amino acid residues, and the deduced amino acid sequence shows 93 and 68% homology to that of rabbit liver alpha subunit of PHK and human muscle alpha subunit of PHK, respectively. We identified a missense mutation, a valine substitution for glycine at amino acid 193, in the PHKA2 gene of a family with XLG.

Amino Acid Sequence↗
PubMed1995

Effects of the subchronic administration of zinc ethylene-bis-dithiocarbamate (zineb) to rabbits.

The effects of subchronic administration (90 d) of zineb were studied in male New Zealand White rabbits. Rabbits were allotted to 3 groups of 8 animals each and offered diets containing 0, 0.3 or 0.6% zineb. A marked decline in weight gain, hemoglobin concentration, hematocrit, and erythrocyte and leucocyte counts occurred at the highest zineb dosage. There was a dose-related depression in circulating thyroid hormones, whereas serum lipid concentration, particularly that of cholesterol and triglycerides, increased. Hepatic lipid concentration was considerably reduced in rabbits exposed to 0.6% zineb. Neither serum testosterone nor the activities of selected testicular enzymes showed changes suggestive of testicular involvement. Pathological changes were in agreement with biochemical findings; there was a marked dose-related enlargement of the thyroid showing histological colloid struma. An increase in relative weight and moderate glycogenosis were detected in liver, whereas no lesions occurred in testes. It was concluded that thyroid and liver are the main targets for zineb toxicity in the rabbit. Unlike the results from previous studies conducted on other food-producing species, repeated exposure of rabbits to zineb failed to cause testicular damage. This might be related to the inability of zineb to significantly accumulate in the testes.

Analysis of Variance↗
PubMed1993

[Clinical study of recombinant human granulocyte-colony stimulating factor (KW-2228) in pediatric field. 1. Effectiveness on neutropenia by various causes and safety].

The effect of KW-2228, a derivative of recombinant human granulocyte colony stimulating factor, on neutropenia in children was studied in 23 cases of aplastic anemia, 13 cases of chronic benign neutropenia, 6 cases of congenital neutropenia (Kostmann type), 2 cases of cyclic neutropenia, 2 cases associated with glycogenosis type Ib and 1 cases associated with immune deficiency. KW-2228 was administered at 1-8 micrograms/kg subcutaneously and at 2-16 micrograms/kg intravenously. As a principle, the administration was started at low doses and continued for 7-28 days increasing the doses in the cases who didn't respond to the treatment well. The response rate of all the cases by the physicians in charge was 81. 8% (36/44). The mean absolute neutrophil count was increased from 304 to 1,300/microliters in aplastic anemia, from 204 to 3,027/microliters in chronic benign type, from 125 to 2,193/microliters in Kostmann type, and from 360 to 2,007 microliters in others. KW-2228 did not induce any noteworthy serious side effects. These results indicated that KW-2228 is a useful drug to treat neutropenia in children.

Adolescent↗
PubMed1994

Immunocytochemical studies on desmin and vimentin in neuromuscular disorders.

Desmin and vimentin are two intermediate filaments, abundant in fetal skeletal muscle, almost undetectable in mature skeletal muscle which increase in regenerating and partially damaged skeletal muscle fibers. To determine their content in neuromuscular disorders immunohistochemical studies of desmin and vimentin were performed on 53 human muscle specimens. The labelled streptavidin biotin technique (DAKO, LSAB Kit, alkaline phosphatase) was used. Strong staining intensity was seen in regenerating and partially damaged fibers of inflammatory myopathies and muscular dystrophy. Necrotic fibers lost their reactivity for both filaments. Type II glycogenosis showed an increased reactivity for desmin and vimentin. A mild increase in desmin and vimentin staining intensity was observed in the atrophic cells of spinal muscular atrophy, but not in the atrophic fibers from other disease entities. Weaker reactivity for desmin was noted in atrophic cells of myotonic dystrophy. The immunohistochemical study of desmin and vimentin in neuromuscular disorders is helpful in detecting degeneration, or regeneration changes, of muscle fibers and may provide clues to the pathogenesis of various muscular disorders.

Adolescent↗
PubMed1994

[A cytofluorimetric study of the glycogen content and of the enzymatic activity of its metabolism in human and animal hepatocytes in liver cirrhosis and during rehabilitation].

Reversibility of hepatocyte functional activity is shown by cytofluorometric and microbiochemical methods in human and rat liver during postcirrhosis rehabilitation. Contents of the total glycogen and its fractions in liver cells were defined on smears of isolated hepatocytes obtained from the live puncture liver biopsies. A double increase of glycogen level is shown, in average, in hepatocytes during experimental liver cirrhosis in rats. At the same time, a relative content of the hard soluble fraction of glycogen increases by 5-8 times. The glycogen level falls to reach the norm already within one month after shutting off the pathogenic influence. However, in some animals after 6 months this level becomes even lower than the normal one. Again, the ratio between the hard soluble fraction and light one remains. In men with cirrhosis glycogenosis of hepatocytes can be expressed in greater degree (increase by 4-5 times): it depends on the illness heaviness. Further changes in glycogen content depend on the pathological process development. Under experimental cirrhosis the activity of glucose-6-phosphatase decreases by 4.3 times. Within one month after stopping the pathogenic influence the activity of this enzyme increases by 3-4 times, but later, in 6 months, it decreases to reach 55-65% of the norm. No actual changes were observed in the activities of other enzymes.

Adult↗
PubMed1995

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

Human phosphofructokinase (PFK) is a tetrameric enzyme, encoded by muscle, liver, and platelet genes. Deficiency of muscle PFK (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. Several disease-causing mutations have been identified in the PFK-M gene in Japanese, Ashkenazi Jewish, and Italian patients. We describe the genetic defects in French Canadian and Swiss patients with the disease, and we use a genetically well-defined yeast system devoid of endogenous PFK for structure-function studies of the mutant PFKs. A G-to-A transition at codon 209-in exon 8 of the PFK-M gene, changing an encoded Gly to Asp, is responsible for the disease in a homozygous French Canadian patient. Gly-209-mutated protein is completely inactive in the yeast system. The Swiss patient is a genetic compound, carrying a G-to-A transition at codon 100 in exon 6 (Arg to Gln) and a G-to-A transition at codon 696 in exon 22 (Arg to His). The mutants expressed in yeast generate functional enzyme with modest changes in thermal stability. The advantages and limitations of the yeast system for expression of human mutant PFKs are discussed.

Adult↗
PubMed1994

Hepatic preneoplasia in hepatitis B virus transgenic mice.

Hepatocarcinogenesis in hepatitis B virus transgenic mice was studied by means of a correlative cytomorphological and cytochemical approach at different time points in animals from 1 to 34 mo old. HBsAg-positive ground-glass hepatocytes emerged throughout the liver parenchyma in nearly all transgenic mice during the first 4 mo after birth. The panlobular expression of HBsAg persisted until foci of altered hepatocytes appeared (6 to 9 mo of age). Three different types of foci of altered hepatocytes-namely, glycogen-storage foci, mixed cell foci and glycogen-poor foci-developed. Hepatocellular adenomas and carcinomas appeared after 11 mo. Orcein staining revealed frequent transitions between ground-glass hepatocytes extensively expressing HBsAg and glycogen-storage (predominantly clear-cell) foci containing HBsAg-positive cytoplasmic components. Similar transitions between ground-glass hepatocytes and glycogenotic (clear) cells were often found in diffuse parenchymal glycogenosis at 11 or 12 mo. Remnants of HBsAg-positive material were also detected in mixed cell foci, glycogen-poor diffusely basophilic cell foci, hepatic adenoma and hepatocellular carcinoma. These findings suggest that ground-glass hepatocytes are the direct precursor of foci of altered hepatocytes and their neoplastic descendants. The extensive expression of HBsAg is gradually down-regulated during neoplastic transformation, just as the morphological the biochemical phenotypes of foci of altered hepatocytes, hepatic adenoma and hepatocellular carcinoma in transgenic mice resemble those described in chemical hepatocarcinogenesis. The predominant sequence of cellular changes leading from glycogen-storage (predominantly clear cell) foci to mixed cell foci, hepatic adenoma and hepatocellular carcinoma is characterized by a gradual decrease in the activities of glycogen synthase, phosphorylase, glucose-6-phosphatase and adenylate cyclase, whereas glucose-6-phosphate dehydrogenase and pyruvate kinase activities increase. These alterations indicate a shift from the glycogenotic state toward an increase in the pentose phosphate pathway and glycolysis.

Animals↗
PubMed1994

[Delay in the diagnosis of McArdle's disease].

We describe the case of a 14-year-old patient with fatigability and muscular cramps beginning in the first infancy and started by physical exercise. The clinical record, the increase of creatinine-kinase without clinical or biological signs of inflammation and the electromyographic normality, suggested the presence of this disease, which was confirmed through microscopic studies (optic and electronic) and histochemistry. We review the clinical and biological characteristics, the diagnostic methods for this type of glycogenosis and its differential diagnosis, because we think that the low suspicion levels among the clinicians contribute to the few cases published in the literature.

Adolescent↗
PubMed1994

Haemopoietic chimaerism: a complication in heterozygote detection tests for inherited defects in cattle.

Several observations are documented which illustrate that haemopoietic chimaerism is a potential source of error when using assays of cellular components of blood to determine genotype for inherited defects in cattle. Acidic alpha-glucosidase activity in peripheral mononuclear cells of a twin Brahman bull that had sired calves affected with generalized glycogenosis was similar to that in cells from homozygous normal animals. Activity in fibroblasts from this bull was similar to that in heterozygotes. alpha-mannosidase activity in fibroblasts of a twin Murray Grey bull with low activity in peripheral granulocytes but high activity in plasma was similar to that in animals homozygous normal for alpha-mannosidosis. Normal argininosuccinate synthetase nucleotide sequence was detected in leucocytes from two calves affected with citrullinemia and mutant sequence detected in leucocytes from their homozygous normal co-twins.

Animals↗
PubMed1993

[Pompe's disease--acid alpha-glucosidase deficiency--a review].

The importance of the role of acid alpha-glucosidase in the lysosomal degradation of glycogen has been emphasized because the deficiency of this enzyme in glycogenosis type II causes glycogen accumulation in lysosomes. Three clinical variants are distinguished. The infantile type has its onset shortly after birth and is known as generalized glycogen storage disease. The adult variant manifests itself mostly after the second decade of life and is characterized by progressive skeletal muscle weakness. The other is childhood type which is usually fatal by the second decade of life. Many biochemical reports of acid alpha-glucosidase have been published. Martiniuk et al reported the cDNA and amino acid sequence of human acid alpha-glucosidase. In prior studies, they reported that the lysosomal acid alpha-glucosidase was polymorphic with three alleles. The rarer allele GAA2 allozyme had a lower affinity for glycogen and starch. We also reported the enzyme heterogeneity in its affinity to Sephacryl S-200 gel. Whereby the enzyme separated into two fractions, S1 and S2. Each fraction contained 76 kDa and 67 kDa components on SDS/PAGE. The spleen enzyme consisted mainly of S1 fraction, containing only a 76 kDa component. In previous extensive studies, different mutations of Pompe's disease have been inferred from alterations in biochemical parameters. More recently Martiniuk et al, Hoefsloot et al and Van der Ploeg et al reported the analysis of cDNA and mRNA. These studies have revealed an absence or abnormal size of mRNA in large numbers of patients and altered restriction endonuclease fragments in a few patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗