Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogen storage disease due to amylo-1,6-glucosidase deficiency was diagnosed in a 21-year-old patient. The enzyme defect was demonstrated by biochemical analysis of muscle tissue, the glycogen content of which was typically increased. Investigation of the patient's kindred showed that his 25-year-old sister was also affected. This report sets out to show that in adolescence and in adult life myopathy may be the leading symptom of the disease. Besides the clinical symptoms of muscle weakness and stiffness, an increase in serum creatine kinase usually is found. While an increase in the glycogen content of skeletal muscle has been known since the first description of this glycogen storage disease, it was believed that the glycogen deposits do not cause a clinically relevant disturbance of muscle function. A review of the literature and our own observations show that this assumption has to be at least partially revised. In patients with unclear myopathy who had hepatomegaly during childhood the possibility of glycogenosis due to amylo-1,6-glucosidase deficiency should be considered, especially if symptoms of hypoglycemia are reported. In the patient as well as in his sister marked kyphoscoliosis was present. Whether there is a connection between skeletal deformity and enzyme defect cannot be determined as the patients were available for further studies.
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PMID:[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]. 679 Dec 75

Histologic findings are presented of 28 biopsies taken from 19 insulin-dependent children of either sex with long-standing diabetes who developed the Mauriac syndrome or forms frustes of it. Using this comprehensive material, probably the largest series of biopsies related to this problem, a detailed survey is given on morphologic liver findings associated with this rare type of chronic-diabetic decompensation of metabolism. Behaviour and extent of fat and glycogen deposits, including nuclear liver glycogen, showed marked variations. Not in all cases hepatomegaly, the main clinical symptom, was reflected by corresponding histologic findings. Liver glycogenosis alone is not pathognomonic of the Mauriac syndrome. In the decompensation phase of the disease however, liver glycogenosis is found fairly frequently, whereas in the recompensation phase hepatocytic lipid deposits are a common finding.
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PMID:Bioptical liver changes in Mauriac syndrome. 728 38

Various metabolic studies were performed in a patient with the idiopathic Fanconi syndrome in whom constant ketonuria suggested that organic acidemia might contribute to the metabolic acidosis. Glucose intolerance with a diminished insulin release was found after PO or IV glucose loads and after glucagon administratio. An insulinopenic "diabetes-like" state has not previously been described in such patients. The patient had impaired galactose-glucose interconversion, elevated blood lactate levels, reduced pyruvate levels, and an increased lactate:pyruvate ratio. Hepatomegaly and hypoglycemia were not present, and liver and muscle biopsies revealed no enzymatic evidence of glycogenosis. The erythrocyte UDP galactose transferase activity was normal. The patient failed to convert fructose to glucose and had a rise in blood lactate after ethanol administration. Further studies revealed no production of glucose after alanine or glycerol administraion, each test being associated with elevated blood lactate levels and, after alanine, an increased lactate:pyruvate ratio. The lactate:pyruvate ratio was elevated after glucagon administration with increased lactate and reduced pyruvate concentrations.
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PMID:Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome. 738 41

X-linked liver glycogenosis (XLG) due to liver phosphorylase kinase (PHK) deficiency is the most frequent liver glycogen storage disease. The affected patients present in early childhood with hepatomegaly and growth retardation. We isolated and determined the structure of human liver alpha subunit of PHK (PHKA2) cDNA. The 3705 base pair open reading frame encodes a polypeptide of 1235 amino acid residues, and the deduced amino acid sequence shows 93 and 68% homology to that of rabbit liver alpha subunit of PHK and human muscle alpha subunit of PHK, respectively. We identified a missense mutation, a valine substitution for glycine at amino acid 193, in the PHKA2 gene of a family with XLG.
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PMID:Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. 754 48

Glycogen storage disease type 1b is a rare metabolic disorder which affects the transport system of glucose-6-phosphatase metabolism. As a result, hepatomegaly, failure to thrive, renal dysfunction and recurrent infections occur in affected patients. In this paper, the oral complications in three children with glycogen storage disease type 1b are discussed. Oral ulcers were a common finding, probably due to severe neutropenia and impaired neutrophil migration which characterises the onset of this rare disorder.
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PMID:Oral manifestations in glycogen storage disease type 1b. 777 66

Cystic fibrosis (CF) is an autosomal recessive disorder that is reported frequently among Caucasians. In view of the high rate of consanguinity in Saudi Arabia and the high number of children dying so young, many Saudi infants with CF remain undiagnosed owing to lack of clinical suspicion and proper diagnostic facilities. Over a 6-year period (1986-1992), we have made a diagnosis of CF in 36 cases. The aim of this report is to increase awareness of the hepatic presentation of CF in the developing word. Nine patients (25%) were originally referred to us as having liver disorders but subsequent investigations confirmed the diagnosis of CF. The referral diagnoses, number of patients in parentheses, were jaundice for investigation (four), glycogen storage disease (three), hepatomegaly for investigation (one) and neonatal hepatitis (one). Liver biopsies, obtained in five cases, demonstrated portal fibrosis and some steatosis. Consanguinity was present in eight cases, two were siblings. Four patients died. Three families had previously lost seven siblings during infancy with clinical features consistent with CF. It is concluded that hepatic presentation among Saudi patients with CF is relatively common, with serious sequelae.
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PMID:Cystic fibrosis and the liver--a Saudi experience. 782 91

Hepatomegaly, the presenting feature of type IV glycogen storage disease at 20 months of age, regressed during childhood. The patient remained asymptomatic until 12 years of age when, after an episode of shock, septicaemia, and spontaneous peritonitis, liver transplantation was successfully performed.
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PMID:Glycogenosis type IV: liver transplant at 12 years. 782 20

Type IA glycogenosis, or von Gierke disease, is the most common among the glycogenoses with enlarged liver. Acute pancreatitis is a rare manifestation of type IA glycogenosis and has been attributed to elevated serum fat levels. We report a case of type IA glycogenosis with acute pancreatitis. The radiologists should be familiar with the computed tomography findings in this rare complications of type IA glycogenosis.
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PMID:[Type IA glycogenosis with acute pancreatitis]. 786 70

A case of glycogen storage disease associated with multiple hepatic adenomas and Niemann-Pick disease is reported. Type IA glycogen disease was diagnosed soon after birth in a female patient, and she was treated at our clinic. At the age of 12 yr, the patient was found to have a hepatic tumor, which was surgically extirpated. Histological examination showed that the tumor was a hepatocellular adenoma. Increasing hepatomegaly and jaundice were noted when the patient was 18 yr of age. She died of pneumonia and cardiac tamponade at the age of 19. The liver weighed 3310 g, and showed severe jaundice and many nodules measuring up to 8 cm in diameter. These nodules were composed of mature hepatocytes without atypia and were diagnosed as hepatocellular adenomas. In addition, many adenomatous lesions were found at the microscopical level. The spleen weighed 1310 g, and showed two small infarctions at the upper part. A histological examination showed a diffuse infiltration of large foamy cells in the splenic red pulp. These cells were 20 to 100 microns in diameter and weakly positive for periodic acid-Schiff (PAS) staining, positive for lipid staining with Sudan black B, and positive for Pearce's phospholipid staining. Electron microscopy showed many lamellar bodies in the cytoplasm that were characteristic of Niemann-Pick disease. These foamy cells were also found in liver, bone marrow, lymph nodes, kidneys, and lungs.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Glycogen storage disease associated with Niemann-Pick disease: histochemical, enzymatic, and lipid analyses. 805 18

A case of sudden death of a 22-year-old man with glycogen storage disease type 1 is reported. Autopsy revealed striking hepatomegaly with round edges. The liver was yellowish and weighed 2840 g. Histologic findings showed excessive deposition of PAS-positive material in the hepatocytes and in the proximal renal tubular epithelium cells, which means the accumulation of glycogen. A mass surrounding splenic artery was seen in the hilus of the spleen. There was about 2000 ml of fresh blood and clots in the abdominal cavity due to bleeding from a ruptured mass. The mass was composed of a hematoma with connective tissue surrounding it and was a pseudoaneurysm. The mass was considered to have been formed from bleeding due to injury to a branch of a splenic artery. Consideration of these findings led to the conclusion that death was caused by loss of blood from rupture of the mass and that the mass was formed due to injury of the branch of the splenic artery in a traffic accident 2 years earlier but not the pathogenesis of glycogen storage disease.
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PMID:[A case of sudden death of a patient with glycogen storage disease type 1--delayed aftereffect of a traffic accident]. 825 6


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