Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually worsens to fixed myopathy and cardiac involvement may present in about half of the patients during disease. Management relies on careful follow-up of symptoms and diet. No common agreement was reached on sugar restriction and treatment in adulthood. We administered two dietary regimens differing in their protein and carbohydrate content, high-protein (HPD) and high-protein/glucose-free (GFD), to our mouse model of GSDIII, starting at one month of age. Mice were monitored, either by histological, biochemical and molecular analysis and motor functional tests, until 10 months of age. GFD ameliorated muscle performance up to 10 months of age, while HPD showed little improvement only in young mice. In GFD mice, a decreased muscle glycogen content and fiber vacuolization was observed, even in aged animals indicating a protective role of proteins against skeletal muscle degeneration, at least in some districts. Hepatomegaly was reduced by about 20%. Moreover, the long-term administration of GFD did not worsen serum parameters even after eight months of high-protein diet. A decreased phosphofructokinase and pyruvate kinase activities and an increased expression of Krebs cycle and gluconeogenesis genes were seen in the liver of GFD fed mice. Our data show that the concurrent use of proteins and a strictly controlled glucose supply could reduce muscle wasting, and indicate a better metabolic control in mice with a glucose-free/high-protein diet.

Graves' disease, Celiac disease and liver function abnormalities in a patient--clinical manifestation and diagnostic difficulties.

Autoimmune diseases due to probable common pathogenesis tend to coexist in some patients. Complex clinical presentation with diverse timing of particular symptoms and sophisticated treatment with numerous side effects, may cause diagnostic difficulties, especially in children. The paper presents diagnostic difficulties and pitfalls in a child with Graves' disease, celiac disease and liver function abnormalities.

Preoperative liver reduction utilizing a novel nutritional supplement.

BACKGROUND: One of the most common reasons for conversion in bariatric surgery is hepatomegaly caused by inadequate exposure of the proximal stomach. This study utilizes a novel nutritional supplement with a calorie-restricted diet to reduce liver volume preoperatively. METHODS: A consecutive series of morbidly obese patients consumed a nutritional supplement called Nuvista(®) for 4 weeks preoperatively. Preoperatively, each patient completed baseline demographics, blood work, urine ketone analysis, ultrasonography of the left lateral segment, and multiple questionnaires. At the time of surgery, these studies were repeated. Data were analyzed using a paired t-test and bivariate analysis where appropriate. A P<.05 was considered significant. RESULTS: Four men and 17 women were recruited with a mean preoperative weight and body mass index of 122.7±15.9 kg and 44.5±3.9, respectively. Mean preoperative liver volume of the left lateral segment was 562.5±291.3 cm(3). After 4 weeks of Nuvista, the mean weight and body mass index decreased significantly to 118.9±15.5 kg and 43.1±3.4, respectively (P<.001). The mean liver volume of the left lateral segment was significantly reduced to 299.9±162.1 cm(3) (P<.001). Mean liver reduction was 43.4%±17.2% (13.6%-81.9%, P<.05). Urinary ketone scores did not show any evidence of starvation. No preoperative factors correlated with liver volume reduction. CONCLUSION: Utilizing Nuvista, as part of a preoperative 4-week calorie-restricted regimen, significantly reduced lateral segment liver volume by 43.4%. This preoperative regimen incorporates healthy behavioral changes that are necessary to sustain long-term weight loss.

Nonalcoholic steatohepatitis associated with psoriasis vulgaris.

A 24-year-old man was admitted to our hospital because of liver dysfunction. He had been diagnosed as having psoriasis vulgaris at 18 years of age. Physical examination demonstrated obesity, general erythema, and hepatomegaly. Laboratory data revealed elevated serum levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and glucose. A histological examination of the liver revealed macrovesicular fatty change and infiltration of inflammatory cells, including lymphocytes and polymorphonuclear cells, within the liver lobules. Pericentral fibrosis and pericellular fibrosis were also recognized. He was diagnosed as having nonalcoholic steatohepatitis (NASH), based on the fact that he had no habit of drinking alcohol, as well as psoriasis vulgaris and diabetes mellitus. We herein report a very rare case of NASH associated with psoriasis vulgaris.

Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.

A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.

Cornstarch therapy in a patient with type III glycogen storage disease.

A child with type III glycogen storage disease is described. The patient presented with growth failure and hepatic dysfunction, and no clinical or biochemical evidence of myopathy. Institution of high protein nocturnal intragastric feedings was associated with improved growth and less hepatic dysfunction. Compliance with tube feedings was sporadic necessitating another approach to the patient's management. The use of oral cornstarch supplements enabled the child to maintain normoglycemia and was associated with clinical and biochemical improvement. Our experience with this child suggests cornstarch therapy may be useful in those patients with type III glycogen storage disease who suffer primarily from hepatic dysfunction and growth failure.