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At least 325 records · Page 18Linked to original sources
PubMed1997

Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance.

Metabolic disorders of ureagenesis can cause a Reye-like syndrome with potentially fatal hyperammonemia in children. A mechanistically heterogeneous subset of these disorders shares the biochemical end-result of impaired mitochondrial citrulline production. These include deficiencies of the mitochondrial enzymes, ornithine transcarbamylase (OTC) and carbamyl-phosphate synthase (CPS), as well as dibasic aminoacidurias hyperammonemia-hyperornithinemia-homocitrullinuria (HHH) and lysinuric protein intolerance (LPI). In this report, we present histopathology of the liver in 10 children with defects of ureagenesis, including 6 with OTC deficiency, 3 with CPS deficiency, and 1 with HHH. The liver showed diffuse microvesicular steatosis, marked periportal nuclear glycogen, and variable portal fibrosis with occasional delicate portal-to-portal bridging. Discrete aggregates of distended hepatocytes with central nuclei and nonvacuolated clear cytoplasm were present in 5 of the 10 children, including two 2 OTC deficiency, 2 with CPS deficiency, and 1 with HHH. Similar aggregates had been previously noted in the liver of some children with OTC deficiency or LPI, but their nature and diagnostic significance had so far remained unknown. Using special stains on frozen tissue sections and electron microscopy, we show that the hepatocytes in these aggregates have little or no cytoplasmic neutral fat, but contain excessive free cytoplasmic glycogen, morphologically mimicking a glycogen storage disease. In our experience, hepatocellular aggregates of this nature do not occur in Reye syndrome or in any of its metabolic mimics other than the subset of defects listed above. Identification of these aggregates on liver biopsy can potentially narrow the differential diagnosis of a Reye-like syndrome with diffuse hepatocellular steatosis.

Adolescent↗
PubMed1995

Glycogenosis type II (acid maltase deficiency).

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysosomal alpha-glucosidase deficiency and the underlying genetic defect has increased significantly during the past decade. This minireview on GSD II was written at the occasion of The International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve, held in Osaka, Japan, July 1994. It is an update of current literature, but also includes original data from the collaborating authors on mutations occurring in the lysosomal alpha-glucosidase gene and on prenatal diagnosis by chorionic villus sampling. The genotype-phenotype correlation and the prospects for therapy are addressed.

Glucan 1,4-alpha-Glucosidase↗
PubMed1995

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Inherited deficiency of acid alpha-glucosidase (acid maltase, GAA) leads to glycogen storage disease type II. Clinical manifestations and prognosis of the disease depend on the age of onset and tissue involvement. GAA deficiency is extremely heterogeneous, ranging from a rapidly progressive fatal infantile-onset form to a slowly progressive adult-onset myopathy associated with respiratory insufficiency. Biochemical and immunochemical studies of the biosynthesis of the enzyme in GAA-deficient patients established the molecular diversity of the disease. Cloning and sequencing of the cDNA and the gene provided the basis for genetic analysis of the patients with different phenotypes. In this article, we summarize the data on mutations in the GAA gene and discuss the correlation between the genotype and phenotypic expression of the disease.

Glucan 1,4-alpha-Glucosidase↗
PubMed1996

Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis.

Five patients with muscle glycogenoses (Gly), 30 normal subjects (NS), and 52 disease controls received 3 Hz repetitive stimulation of the ulnar nerve for 4 min (P-LRNS) during regional ischemia and during normal circulation. During regional ischemia, the compound muscle action potential (CMAP) of NS showed 8.5% (SE: 1.0) facilitation after 1 min of P-LRNS and 4.8 +/- 1.5% facilitation after 4 min. Gly showed 8.1 +/- 1.0% facilitation after 1 min of P-LRNS but -58.6 +/- 6.9% depression after 4 min of P-LRNS. During normal circulation, in 18 NS and 4 Gly tested, the facilitation detected after 1 min of P-LRNS was unchanged until the end of stimulation. Compared with the mean +/- 2 SD of NS, individual values of CMAP depression were abnormal in all Gly patients already by the 3rd min of ischemic P-LRNS. Of disease controls, myasthenia gravis patients only showed a CMAP depression during ischemic P-LRNS which was distinguishable from that detected in Gly, being mainly induced by neuromuscular transmission block.

Action Potentials↗
PubMed1975

The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study.

Muscle biopsies were obtained from three infants under the age of 12 mth, each of whom was diagnosed as having Pompe's disease. The biopsies revealed a severe vacuolar myopathy with accumulation of large amounts of PAS positive material within the muscle fibres, changes similar to those in adult cases of the disease. In addition large amounts of metachromatic material were found within the muscle fibres in all three cases and in two of them scattered, rather sparse perivascular lymphocytic infiltrates were seen in the interstitial tissue. Review of material previously obtained from two adult cases showed no accumulation of metachromatic material in the older case and only moderate amounts in the younger. However, dense interstitial lymphocytic infiltrates were seen in the former, some concentrated around small vessels. These observations suggest that the pathogenesis of the muscle disorder in acid maltase deficiency may not depend on abnormal glycogen storage only.

Adult↗
PubMed1992

Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.

Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.

Chorionic Villi Sampling↗