[Hepatic glycogenoses. Introduction].

P Guibaud; N Moatti

PubMed · 3164606

[Hepatic glycogenoses. Introduction].

Abstract

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.

Explore related subjects

Glycogen Storage Disease Humans Liver Diseases English Abstract Journal Article

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

P Guibaud, N Moatti. [Hepatic glycogenoses. Introduction].. https://pubmed.ncbi.nlm.nih.gov/3164606/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.

Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. GSD type I, glucose 6-phosphatase system, has types Ia, Ib, Ic, and Id, glucose 6-phosphatase, glucose 6-phosphate translocase, pyrophosphate translocase, and glucose translocase deficiencies, respectively. GSD type II is caused by defective lysosomal alpha-glucosidase (GAA), subdivided into 4 onset forms. GSD type III, amylo-1,6-glucosidase deficiency, is subdivided into 6 forms. GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of the glycogen-branching enzyme in numerous forms. GSD type V, McArdle disease or muscle phosphorylase deficiency, is divided into 2 forms. GSD type VI is characterized by liver phosphorylase deficiency. GSD type VII, phosphofructokinase deficiency, has 2 subtypes. GSD types VIa, VIII, IX, or X are supposedly caused by tissue-specific phosphorylase kinase deficiency. GSD type 0, glycogen synthase deficiency, is divided into 2 subtypes.

Glycogen Storage Disease↗

PubMed2005

Inherited hyperuricemic disorders.

Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrophosphate synthetase and deficiency of glucose-6-phosphatase. The undersecretion disorders are autosomal dominantly inherited and are heterogeneous. A major number of these patients result from mutations in the gene that codes for uromodulin. Treatment is with allopurinol.

Glycogen Storage Disease↗

PubMed2004

[Glycogen storage disease type IX presenting as abdominal distention, hepatomegaly and hypoglycemia during infancy].

Glycogen storage diseases are a rare group of disorders in daily pediatric practice but must be taken into account when a patient presents with poor physical growth, hepatomegaly, hypoglycemia, hypotonia and/or other metabolic disturbances. Early diagnosis allows treatment that might improve the patient's outcome to be started or, at the very least, genetic counseling to be given to the parents. We present a 10-month-old boy who presented with growth retardation, abdominal distention and hepatomegaly and who was finally diagnosed with glycogenosis type IX. Definitive diagnosis was obtained by demonstrating the enzyme defect (phosphorylase beta-kinase) in affected tissues. Enteral nutrition was started using a diurnal high-carbohydrate diet with frequent feedings and nocturnal nasogastric continuous feeding, achieving optimal growth parameters and clinical response.

Glycogen Storage Disease↗