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)

Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were found to have very high concentrations of methylmalonic acid in their serum and urine. In vitro studies of fibroblasts demonstrated that the infants had different variants of methylmalonic acidemia.Vitamin B(12) was given in two different forms at 1 month of age and at 12 months of age. Each trial continued for 4 months but neither infant showed a clinical or biochemical response.In both infants hyperglycinemia, neutropenia and thrombocytopenia developed during acute metabolic crises only. Hypoglycemia was found in patient 2. Hyperammonemia was severe in patient 2 during acute crises but never appeared in patient 1. When clinically well, both infants continued to excrete abnormal amounts of methylmalonic acid in the urine and both had persistent compensated metabolic acidosis.Marked hyperuricemia developed in patient 1 at 18 months of age and led to progressive renal failure. Allopurinol therapy was necessary to keep the uric acid concentration within the normal range. Renal function returned to normal, as indicated by a marked increase in the renal clearance of creatinine and uric acid.Patient 1 is physically and mentally retarded, and has moderate hypotonia, hepatomegaly and persistent vomiting. Patient 2 has developed normally.The urine concentrations of methylmalonic acid in the four parents were normal.
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PMID:Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. 3 17

Overnight metabolic studies in 39 poorly controlled insulin-treated diabetic patients aged 9 to 66 years showed hypoglycaemia (blood-glucose less than 2 mmol/1) in 22 patients; it lasted 3 h or more in 17. Hypoglycaemic symptoms were very mild or absent, but 19 patients had other features of overtreatment with insulin. These included lethargy, depression, night sweats, morning headaches, fits (3 patients), glycogen-laden hepatomegaly (3), and acquired tolerance to high doses of insulin (mean 1 u/kg/24 h). The best clinical clue to recurrent nocturnal hypoglycaemia was the intermittent occurrence of symptoms, however "mild" and infrequent these appeared to be. Reduction of insulin by a mean of 25% in these patients (without change of species) did not result in loss of overall control; 1 patient with recurrent ketoacidosis was stablished on 40% of his initial dose. It is difficult, sometimes impossible, to achieve good overnight control with conventional once or twice daily insulin therapy. Since patients readily become tolerant of low blood-glucose levels, reliance on urine tests and symptoms of hypoglycaemia as a guide to dosage easily produces a spiral of overtreatment.
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PMID:Unrecognised nocturnal hypoglycaemia in insulin-treated diabetics. 8 75

Famialial defect of hepatic fructose-1,6-diphosphatase. Diagnosis was suspected in a male newborn since a brother was also concerned by the disease. The disease may be therefore diagnosed early, when the onset is neonatal. In the neonatal distress syndromes due to hereditery disorders of metabolism, a semiologic field may be isolated in which symptoms begin after an interval of short duration with hypoglycemia, hepatomegaly, lactic acidosis and ketosis ("enlarged liver hypoglycemia"). This possibility leads first to a symptomatic treatment of hypoglycemia and acidoketosis, then to the feeding with human milk and simple functional tests for the diagnostic approach.
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PMID:[Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency]. 16 61

During a 23 year period at Memorial Hospital, the diagnosis of liver cell carcinoma was made in 42 patients who were 11 to 40 years old. Ninety per cent were Caucasian, mostly born in the United states. No occupational hazard was detected. Serum hepatitis antigen was demonstrated in only one patient. Alpha fetoprotein was found in the serum of 55 per cent of nine patients tested. Eight-three per cent were Rh positive, 43 per cent were ABO groups, A or O, respectively. Twenty-three per cent of 13 patients with sufficient material for study had an associated cirrhosis. Of these, active hepatitis with cirrhosis was present in one patient; postnecrotic cirrhosis was present in another. Approximately 7 per cent had a history of previous liver disease. One patient had infectious mononucleosis, and nearly 13 per cent gave a family history of cancer. Weight loss or pain in the right upper abdominal quadrant was present in 65 per cent, and hepatomegaly was found in 88 per cent. Only one patient presented with hemoperitoneum simulating an acute condition within abdomen. The liver profile examinations characteristically revealed an elevation in serum alkaline phosphatase, 5 nucleotidase, and Bromsulphalein retention with normal bilirubin level. The most common finding, upon roentgenographic examination, was an elevated right hemidiaphragm. Selective celiac and superior mesenteric angiography and 99mTc sulfur colloid liver scans were both done in 13 patients. There was a 75 per cent accuracy rate in localization of the tumor. At laparotomy, the tumor was found to be confined to one lobe in seven patients and involved both lobes in ten. Twenty-seven patients were thought to have multicentric tumors and 15 unicentric lesions. Only ten were found to be candidates for hepatic lobectomy. Five and ten years survival rates were 20 per cent; the operative mortality rate was 40 per cent. Twenty per cent died within a year, ten per cent, one patient, is alive with disease at 28 months and another is free of disease at 31-months. Paraneoplastic syndromes were erythrocytosis in two patients, terminal stage of hypoglycemia in one patient, and hypocholesterolemia with associated excess beta globulin in one patient.
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PMID:Liver cell carcinoma during the prime of life. 17 34

Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin.
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PMID:[Enzymopathic congenital hyperlactacidemia]. 18 25

A girl aged 3 years and 11 months, with recurrent episodes of unexplained metabolic acidosis, hepatomegaly, and fasting hypoglycemia unresponsive to glucagon, showed profound falls in blood glucose levels in response to oral fructose and glycerol challenge. In vitro analysis of her hepatic glycolytic and gluconeogenic enzymes demonstrated absent fructose-1,6-diphosphatase activity. A therapeutic trial of orally given folic acid, 30 mg daily, did not improve her tolerance for fructose and glycerol. Over the next two years she showed improvement in tolerance to fasting, and to fructose and glycerol loading on dietary management.
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PMID:Fructose-1,6-diphosphatase deficiency. 19 69

The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al., 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.
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PMID:Disordered intestinal function in glycogen storage disease. 22 44

A child with hemihypertrophy presented with Wilm's tumor at 3 years of age. History included neonatal hypoglycemia and the discovery of hepatomegaly and renal dysplasia. This case report emphasizes the close relation of body hemihypertrophy to Beckwith's syndrome, as well as the high degree to which both predispose to certain tumors.
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PMID:[Nephroblastoma and whole-body hemihypertrophy. Relation to Wiedemann-Beckwith's syndrome]. 23 62

Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine (D-T4) at a mean dose of 0.165 mg/kg/day for an average period of 6 months. Phosphorylase-kinase was undetectable in the haemolysates of erythrocytes (3 patients) or in the liver (one patient) before, and still undetectable in the haemolysates of the four patients during treatment, thus pointing to X-linked phosphorylase-kinase deficiency glycogen storage disease (GSD IXb). D-T4 administration resulted in complete normalization of liver size, decrease of serum GOT (p less than 0.02), GPT (p less than 0.05) and triglycerides (p less than 0.01) to normal values, as well as correction of mild asymptomatic hypoglycemia (p less than 0.01). As long as the outcome of type IXb glycogenosis in adult life remains undefined, dextrothyroxine therapy seems an effective means of reducing liver size and correcting part of the biochemical abnormalities of the disease.
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PMID:Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. 28 May 44

Storage diseases of the liver are reviewed, classified according to the clinical symptoms. Glycogen storage diseases go along with enlargement of the liver, - the size of the spleen being normal in the beginning; presenting symptoms in many cases are metabolic disturbances as for instance hypoglycemia. Acute symptoms due to derangement of liver function occur in galactosemia and in hereditary fructose intolerance when uptake of the hexoses is not tolerated. Splenomegaly and hepatomegaly are typical in certain lipid storage diseases; these diseases may as well exhibit hematologic symptoms. Bone dysplasias are discussed finally, which use to go along with enlargement of the liver due to storage of compounds not metabolized.
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PMID:[Hereditary storage diseases of the liver (author's transl)]. 39 11


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