• No results found

Glycogen storage disease type 1

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

... The patient also had excess lactate production related to type A lactic acidosis that is associated with tissue hypop- erfusion and enhanced anaerobic metabolism. The patient developed circulatory failure with ...

6

Liver transplantation in glycogen storage disease type I

Liver transplantation in glycogen storage disease type I

... died; 1 due to rejection related liver failure (15 years after 1 st liver transplantation, 1 year after 2 nd liver transplantation with combined kidney transplantation), 1 committed suicide 3 ...

7

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

... Metabolic syndrome (MS), one of the most common clinical conditions nowadays, represents a combination of cardiometabolic risk determinants, including visceral obesity, insulin resistance (IR), hypertension, glucose ...

8

McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case

McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case

... McArdle’s disease or Glycogen Storage Disease Type V (GSDV) is caused by a de iciency in one of the enzymes responsible for the metabolism of glycogen in the ...this ...

5

Glycogen storage disease type III: modified Atkins diet improves myopathy

Glycogen storage disease type III: modified Atkins diet improves myopathy

... Suppression of insulin secretion seems desirable in GSD IIIa, however simple hypocaloric catabolism will result in hypoglycaemia. The eucaloric ketogenic diet results in increased blood levels of ketone bodies as ...

6

ATP Depletion, a Possible Role in the Pathogenesis of Hyperuricemia in Glycogen Storage Disease Type I

ATP Depletion, a Possible Role in the Pathogenesis of Hyperuricemia in Glycogen Storage Disease Type I

... Glucagon infusion in seven patients with GSD-I caused a decrease in hepatic ATP from 2.25 ± 0.09 to 0.73 ± 0.06 µmol/g liver (P <0.01), within 5 min, persisting in one patient to 20 min (1.3 µmol/g). Three patients ...

9

Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects

Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects

... The glycogen-rich cells have a more rapid rate of glucose utilization upon incubation which is not reflected by a higher lactate ...into glycogen in affected cells. The rate of 14 CO 2 production from ...

7

Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia

Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia

... Affected puppies described in this experiment are from Malteagle (Maltese x Beagle) and/or Maltihound (Maltese x Beagle x Hound) carriers. Carrier females were checked weekly for the first signs of proestrus (vulvar ...

77

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

... The glycogen content in a liver biopsy was low (Table I), whereas the activities of glucose-6-phosphatase, de- branching enzyme, total and active phosphorylase, fructose-1,6-bis- phosphatase, and fructose aldolase ...

10

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene

... BE88( 1 ) and BE2205( 2 ), which were described ...BE757( 1 ) 5 9 - GTACTACCtAGgATCAAAGGCC-3 9 sense, which contained two basepair mismatches at nucleotide 765 and 768 to create the same re- striction ...

9

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

... How can the exon 3 mutations, which create premature stop codons resulting in severely truncated proteins without GDE activity, retain GDE activity in muscle? Liver and mus- cle GDE isoform mRNAs are identical except for ...

7

Glycogen Storage Disease Type I.

Glycogen Storage Disease Type I.

... Glycogen storage diseases (GSD) are a group of diseases resulting from a defect in an enzyme required for glycogen synthesis or degradation of ...of glycogen that has an abnormal structure or ...

5

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

... have glycogen storage disease type Ia (GSD-Ia), which is an autosomal recessive disease caused by bi-allelic mutations in the G6PC ...of disease symptoms after ...

9

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

... (CGMS) 1 week after starting acarbose showed downtrending night-time blood glucose with an episode of hypoglycemia in the morning (see ...proximately 1 year to control her blood glucose, and at the age of ...

5

GALACTOSE TOLERANCE IN GLYCOGEN STORAGE DISEASE

GALACTOSE TOLERANCE IN GLYCOGEN STORAGE DISEASE

... In the patient with hepatorenal glycogen storage disease, galactose disappeared from the blood in a normal manner and the concentration of glucose decreased. while that of lactate increa[r] ...

13

Surgical Therapy of Glycogen Storage Disease

Surgical Therapy of Glycogen Storage Disease

... Subjects: The study group included 150 high risk infants born at the University of Missouri. Medical Center[r] ...

7

LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE

LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE

... Leukocyte debranching enzyme was normal in patients with glycogen storage disease of Types I, VI hepatic phosphorylase deficiency, and an unknown type.. We acknowledge the kind help and [r] ...

6

ENZYME INDUCTION IN A CASE OF GLYCOGEN STORAGE DISEASE

ENZYME INDUCTION IN A CASE OF GLYCOGEN STORAGE DISEASE

... phosphatase in cases of amylo-1, 6-glucosi- dase deficiency could be the result of a double enzyme deficiency due to two structural gene defects, or secondary to a. regulatory gene disor[r] ...

13

First Case of Liver Glycogen Documented in the Pediatric Ward of the University Hospital of Treichville (Cote D’Ivoire)

First Case of Liver Glycogen Documented in the Pediatric Ward of the University Hospital of Treichville (Cote D’Ivoire)

... The liver clinical examination noticed a large hepatomegaly. Its lower edge was smooth. Its length was 9.5 cm long below the costal margin. Figure 1 showed the association with splenomegalia type II (HACKET ...

5

The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

... Results. The course of Pompe’s disease is essentially the same in the Dutch and the general patient popula- tion. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 ...

11

Show all 10000 documents...

Related subjects