glycogen storage disease/braken

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Nutritional deficiencies in a patient with glycogen storage disease type Ib.

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The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a dietitian, experienced in the treatment of GSD

Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta.

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A male child presented at 5 months of age with vomiting, diarrhoea, hypoglycaemia and hepatomegaly. Histology on a frozen liver biopsy suggested glycogen storage disease (GSD), while biochemical analyses confirmed an elevated glycogen content and normal activities of the GSD enzymes with the proviso

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

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Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis.All patients under 18 years of age presenting to Paediatric Gastroenterology unit

Glycogen storage disease type II in the Lapland dog.

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A newly recognized inherited metabolic disease in the Lapland dog is described. The metabolic defect is a deficiency of acid-alpha-glucosidase, a lysosomal hydrolase. The clinical picture is dominated by vomiting related to megaoesophagus, and progressive muscle weakness leading to exhaustion and

Type I glycogen storage disease: five years of management with nocturnal intragastric feeding.

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It has been five years since the original report indicating that intragastric feedings could reverse most of the clinical and metabolic abnormalities present in patients with type I glycogen storage disease. We have now treated seven patients with nocturnal intragastric feedings for five years. All

Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.

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BACKGROUND Inflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly. Based on few published cases, there is evidence that

Hepatic glycogenosis: reversible hepatomegaly in type 1 diabetes.

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OBJECTIVE To describe the aetiology, clinical features and appropriate treatment for hepatic glycogenosis in poorly controlled type 1 diabetes. METHODS A review of three adolescents with poor diabetes control, hepatomegaly and elevated serum liver transaminase concentrations. RESULTS Symptoms

Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes.

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In adults with diabetes mellitus, hepatomegaly and abnormalities of liver enzymes occur as a consequence of hepatocellular glycogen accumulation, as has been well described in children. During periods of hyperglycemia glucose freely enters the hepatocytes driving glycogen synthesis, which is

Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels.

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We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had

Dumping syndrome, a cause of acquired glycogenic hepatopathy.

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A 2-year-old boy, having undergone fundoplication for gastroesophageal reflux disease and fed by gastrostomy, presented with recurrent emesis, syncope with hypoglycemia, and persistently elevated serum liver transaminase levels. Liver biopsy revealed hepatocellular glycogenosis by light and electron

Braın abscess due to Streptococcus intermedius secondary to mastoiditis in a child.

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BACKGROUND Brain abscess is a rare but serious, life-threatening infection in children. It may arise from parameningeal infections such as otitis media, sinusitis and mastoiditis. METHODS A ten-year-old boy with the diagnosis of glycogen-storage disease and obesity was admitted to the emergency room

Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.

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Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X).

Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus.

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Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly. However, the sole presenting feature of Mauriac

Dietary Therapy for Von Gierke's Disease: A Case Report.

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Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with

Gout, uric acid and purine metabolism in paediatric nephrology.

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Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephrologist in this field. Children and infants may present chronically with stones or acutely

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