1/55. Case report: rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type iii.glycogen storage disease type iii, or Cori's disease, is caused by a deficiency of amylo-1,6-glucosidase (debranching enzyme), which leads to the storage of an abnormal glycogen in the liver and in skeletal and heart muscle. glycogen storage disease type iii is usually characterized by hepatic symptoms, growth failure and myopathy. Even though liver cirrhosis is reported, portal hypertension is a rare complication of this disease. We describe the case of a glycogen storage disease type III patient who was diagnosed at 3 years of age and developed complications (liver cirrhosis and rupture of a gastric varix) at 31 years of age. We discuss the histological progression to cirrhosis of the liver and describe the liver enzyme profile at 3 and 31 years of age.- - - - - - - - - - ranking = 1keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, glucosidase, disease type, storage disease, glycogen, storage, deficiency (Clic here for more details about this article) |
2/55. Different clinical aspects of debrancher deficiency myopathy.OBJECTIVE: To characterise the main clinical phenotypes of debrancher deficiency myopathy and to increase awareness for this probably underdiagnosed disorder. methods: The diagnosis of debrancher deficiency was established by laboratory tests, EMG, and muscle and liver biopsy. RESULTS: Four patients with debrancher deficiency myopathy were identified in the Tyrol, a federal state of austria with half a million inhabitants. Clinical appearance was highly variable. The following phenotypes were differentiated: (1) adult onset distal myopathy; (2) subacute myopathy of the respiratory muscles; (3) severe generalised myopathy; and (4) minimal variant myopathy. exercise intolerance was uncommon. The clinical course was complicated by advanced liver dysfunction in two patients and by severe cardiomyopathy in one. All had raised creatine kinase concentrations (263 to 810 U/l), myogenic and neurogenic features on EMG, and markedly decreased debrancher enzyme activities in muscle or liver biopsy specimens. The findings were substantiated by a review of 79 previously published cases with neuromuscular debrancher deficiency. CONCLUSIONS: This study illustrates the heterogeneity of neuromuscular manifestations in debrancher deficiency. Based on the clinical appearance, age at onset, and course of disease four phenotypes may be defined which differ in prognosis, frequency of complications, and response to therapy.- - - - - - - - - - ranking = 1.6959752240205E-5keywords = deficiency (Clic here for more details about this article) |
3/55. Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.Subacute severe myopathy of the respiratory muscles developed in a 47-year-old woman after a 3-week period of strict fasting. Histological and biochemical work-up of muscle biopsy specimens permitted the diagnosis of debrancher deficiency. The course of the disease was characterized by subacute respiratory failure and prolonged mechanical ventilation. After initiation of a high-protein diet the patient was successfully weaned from the respirator and recovered well. To our knowledge this is the first reported case of adult-onset debrancher deficiency myopathy presenting with subacute respiratory failure and responding to high-protein diet.- - - - - - - - - - ranking = 0.031789742164197keywords = glycogenosis, glycogen, deficiency (Clic here for more details about this article) |
4/55. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type iii (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1448R missense mutation in a Japanese GSD IIIa patient from a consanguineous family. sequence analysis of cDNA from the patient' liver specimen revealed two separate nucleotide changes: a G-to-A transition at nucleotide 3737 in exon 26 (3737G>A) and a G-to-C transversion at nucleotide 4742 in exon 33 (4742G>C), both of which result in substitution of glycine by arginine (G1115R and G1448R). Because homo-zygotes for G1115R were found in healthy controls, G1115R seems to be a polymorphism. Restriction fragment length polymorphism analysis with Bsa JI showed that the patient was homozygous for G1448R and that none of the normal controls had the mutation. This missense mutation is located at a putative glycogen-binding site that is indispensable for enzyme activity. Thus, G1448R is likely to be the causative mutation in this patient. This is the first report of a missense mutation associated with GSD III.- - - - - - - - - - ranking = 0.42992793448702keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, disease type, storage disease, glycogen, storage (Clic here for more details about this article) |
5/55. Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review the literature on mutations in GSD III to understand better the molecular basis of GSD III. In our first case, the homozygous A-to-C mutation at the acceptor site of intron 5 (IVS5-2A > C) was identified. This leads to the skipping of exon 6 and the predicted mutant protein was found to be 68 amino acids shorter than normal. This is the first report of skipping exon 6, which encodes one of the putative active sites, resulting in a profoundly deleterious effect on debrancher activity. In our second case, the homozygous deletion of an A at position 4234 (4234delA) was identified; this induces a frameshift resulting in the appearance of a stop codon at amino acid position 1276 (1276X). In patients with GSD IIIa, several mutations of the debrancher gene located in the C-terminal region containing putative glycogen binding domains have been identified as well as 4234delA in our second case. On the other hand, specific localization of the mutations within exon 3 was proposed in patients with GSD IIIb.- - - - - - - - - - ranking = 1.8612654288588keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, disease type, storage disease, glycogen, storage, acid (Clic here for more details about this article) |
6/55. Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease.Type III glycogen storage disease (GSD III) is an autosomal recessive disorder characterized by the accumulation of abnormal glycogen in the liver and, in most patients, in the muscle. Although liver fibrosis is a well-known consequence of GSD III, until now only eight cases of liver cirrhosis and two cases of hepatocellular carcinoma have been described in patients affected by this disease. In this case report, the authors describe the clinical history of a patient affected by GSD III who developed severe liver disease during her adult life, progressing from fibrosis to cirrhosis and finally to hepatocellular carcinoma. Until now, the hepatic involvement in GSD III has been considered by most authors as mild and almost always self-limiting. This report, together with the previously published cases, clearly indicates that severe and progressive liver disease may complicate this metabolic disorder. These observations advise a careful hepatologic follow-up of patients affected by GSD III.- - - - - - - - - - ranking = 0.31035305351283keywords = glycogen storage disease, glycogen storage, storage disease, glycogen, storage (Clic here for more details about this article) |
7/55. Compound heterozygous patient with glycogen storage disease type iii: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.glycogen storage disease type iii (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen-debranching enzyme (AGL). We studied a 2-year-old GSD III patient whose parents were from different ethnic groups. Nucleotide sequence analysis of the patient showed two novel mutations: a single cytosine deletion at nucleotide 2399 (2399delC) in exon 16, and a G-to-A transition at the 5 position at the donor splice site of intron 33 (IVS33 5G>A). Analysis of the mRNA produced by IVS33 5G>A showed aberrant splicing: skipping of exon 33 and activation of a cryptic splice site in exon 34. Mutational analysis of the family revealed that the 2399delC was inherited from her father, who is of Japanese origin, and the IVS33 5G>A from her mother, who is of Chinese descent, establishing that the patient was a compound heterozygote. To our knowledge, this is the first report of a mutation identified in a GSD III patient from the Chinese population.- - - - - - - - - - ranking = 0.88035422701724keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, disease type, storage disease, glycogen, storage, deficiency (Clic here for more details about this article) |
8/55. diabetes mellitus secondary to glycogen storage disease type iii.BACKGROUND: diabetes mellitus is a rare complication of glycogen storage disease type III (GSD III). CASE REPORT: We describe a 47-year-old man with GSD III who developed diabetes mellitus. He was diagnosed as having GSD III at the age of 18 years, and his glucose tolerance was normal at that time. Liver dysfunction and muscle atrophy gradually progressed, and the patient developed diabetes mellitus at the age of 45. When the post-prandial hyperglycaemia worsened, we instituted treatment with an alpha-glucosidase inhibitor, voglibose, and this improved glycaemic control without any adverse effects. CONCLUSIONS: We recommend serial evaluation for complications of GSD III, and propose that an alpha-glucosidase inhibitor may be a favourable drug in treating diabetes mellitus secondary to GSD III.- - - - - - - - - - ranking = 0.90026459260303keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, glucosidase, disease type, storage disease, glycogen, storage (Clic here for more details about this article) |
9/55. Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.We report the molecular genetic abnormalities of a patient with GSD IIId presenting with progressive myopathy and cardiopathy leading to a fatal outcome. We identified two independent deletions including a 4 bp deletion (117-1120) and a 98 bp deletion (1135-1232) in cDNA. Sequencing of the genomic dna of the corresponding region revealed a 4 bp deletion in exon 10; however, the other 98 bp deletion corresponding to exon 11, which was deleted in cDNA, was present in genomic dna. We therefore concluded that skipping of exon 11 occurred in the cDNA of the patient. Intron/exon boundary analysis of the skipped exon 11 revealed no mutation in the consensus splice-site sequence. If normal splicing had occurred, a stop codon would have appeared within exon II due to frameshift mutation. The mechanism of exon skipping observed in our patient is as yet unknown, and it is still not clear whether intraexonal mutation of the preceding exon can influence splice-site selection. It is possible that a unique exon skipping occurred, preventing the appearance of a stop codon in our patient.- - - - - - - - - - ranking = 0.82594087995372keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, disease type, storage disease, glycogen, storage (Clic here for more details about this article) |
10/55. Severe hypoglycaemia in a patient with glycogen storage disease type iii induced by infectious mononucleosis.A 10-month-old girl with glycogen storage disease type iii developed recurrent severe hypoglycaemia induced by infectious mononucleosis. Severe metabolic damage probably reflected a rapid breakdown of liver cells induced by the viral infection.- - - - - - - - - - ranking = 1.0324260999421keywords = glycogen storage disease type, storage disease type, glycogen storage disease, glycogen storage, disease type, storage disease, glycogen, storage (Clic here for more details about this article) |
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