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

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
 ...
PMID:Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. 828 68

We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.
 ...
PMID:[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis]. 874 52

Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.
 ...
PMID:Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. 942 8

Clinical, haematological and pathological studies were undertaken in Jordan in a stud of 103 racing horses clinically suffering from babesiosis and apparently healthy animals. Out of 47 horses which participated in strenuous exercise, three mares showed sudden onset of immobility and reluctance to move and two mares died. Clinical examination revealed that these five horses (group 1) had fever, anorexia, weakness and severe icterus and, in two mares, haemoglobinuria. Haematological examination revealed that all five horses were heavily parasitized with Babesia equi. This was also found in four horses (group 2) with no evidence of clinical babesiosis. In group 3 (94 horses), neither clinical signs nor B. equi were observed in the blood. The horses in group 1 and 2 recovered after treatment with imidocarb. When the mean values of white blood cell count, red blood cell count, haemoglobin and packed cell volume in group 1 were compared with those for groups 2 and 3, a significant difference was found (P < 0.05). A significant difference was also found when the mean values were compared before and after treatment. Examination of serum total protein, bilirubin and serum enzymes revealed a significant decrease in the mean value of total serum protein (P < 0.05), and a significant increase in the mean values of bilirubin (P < 0.05) in group 1 compared to groups 2 and 3. A significant elevation in the mean value of aspartate aminotransaminase, gamma-glutamyltransferase and creatine phosphokinase and a substantial elevation in the mean value of alkaline phosphatase was also observed in group 1 compared to groups 2 and 3. Postmortem examination of the dead horses showed that the animals had icterus, hepatomegaly and full urinary bladder with deep-red urine. Histopathological examination of the liver showed massive centrilobular degeneration and necrosis. The bile canaliculi and bile ducts were prominent and plugged with dark-brown to canary-coloured bile pigments. The lungs had congestion, oedema, and thrombosis of pulmonary veins. Our results suggest that the horses suffered from B. equal with clinical manifestation following exercise. The clinical, haematological and pathological findings indicate that the animals suffered from haemolytic anaemia which responded to imidocarb therapy.
 ...
PMID:Equine babesiosis associated with strenuous exercise: clinical and pathological studies in Jordan. 918 24

Myotonic dystrophy (DM) is an autosomal dominant multisystem disorder. Little evidence suggests the existence of liver damage in a small number of patients. We have prospectively evaluated liver and gallbladder function in 53 patients with DM in relation to clinical and genetic parameters. None of the patients had an enlarged liver, signs of cirrhosis, or portal hypertension. All were free of medication, and none were pregnant or had a history of alcohol abuse. In 35 (66%) patients, serum activity of at least one of six liver enzymes assayed was abnormal. An elevated level of alkaline phosphatase was found in 50.9%, of gamma-glutamyltransferase in 52.8%, of 5' nucleotidase in 43.4%, of serum aspartate aminotransferase in 35.8%, of serum alanine aminotransferase in 33.9%, and of lactate dehydrogenase in 37.7%. Liver function test results did not correlate with severity of muscle weakness, disease duration, or serum levels of creatine kinase, glucose, or lipids. Motility of gallbladder and abdominal ultrasonography were normal. Cytosine-thymidine-guanine repeat expansion by southern blot did not correlate with liver enzyme abnormalities. We conclude that elevation of liver enzymes is frequent in DM and should be included as an additional laboratory finding of the disease.
 ...
PMID:Abnormal liver test results in myotonic dystrophy. 964 14

In a 14-year-old Japanese girl, manifested recurrent myalgia with elevated serum creatine kinase after moderate exercise became evident, and she was diagnosed as having a myopathic form of very-long chain acyl-CoA dehydrogenase deficiency. Her first clinical symptom of the disease was evident when she was 6 y of age. She had never had hypoglycemic attacks, and hepatomegaly and cardiomyopathy were absent. The diagnosis was suspected on the basis of the urinary organic acid profile after a 36-h fast, long-chain fatty acid-loading test, and the blood acylcarnitine profile. Acyl-CoA dehydrogenase activity with palmitoyl-CoA as a substrate was severely decreased in her fibroblasts, and the amount of very-long chain acyl-CoA dehydrogenase protein was reduced. She was a compound heterozygote of A416T from her father and R450H from her mother. Transient expression of mutant A416T cDNA retained a significant residual acyl-CoA dehydrogenase activity of 10% and 20% normal at 37 degrees C and 30 degrees C, respectively. Specific activity of A416T mutant protein was calculated to be one fifth that of control. In the case of R450H mutant expression, a low residual acyl-CoA dehydrogenase activity of 5% normal was detected at 30 degrees C although significant activity was absent at 37 degrees C. The R450H protein was not detected at 37 degrees C but was clearly detected at one fourth the normal amount at 30 degrees C. These results indicate that both mutations were temperature-sensitive mild mutations, the result being the mildest phenotype of very-long chain acyl-CoA dehydrogenase deficiency.
 ...
PMID:Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. 1115 18

Two patients with serologically-proven dengue virus infection and Morbitz type I second degree atrioventricular (AV) block are described. A 7 years old boy (patient 1) with grade 2 and a 7 years old girl (patient 2) with grade 3 illness were admitted to the hospital on the 3rd and the 5th day of the illness, respectively. Both had typical resentation for dengue hemorrhagic fever including fever, hepatomegaly, thrombocytopenia and signs of extravascular leakage. The 7 year old girl also had epistaxis and anemia (Hct 24%). Morbitz type I second degree and 2:1 AV block developed on day 7 (patient 1) and day 8 (patient 2) of the illness, both during recovery periods. Patient 1 also had occasional monomorphic premature ventricular contraction (PVC). There was no other abnormality in the 12-lead EKGS and echocardiograms showed normal ventricular systolic function in both. Other than mild hypokalemia (3.3 and 3.4 mgq/l), serum electrolytes were normal. Neither patients had elevation of serum creatine phosphokinase (CPK). In patient 1, exercise (on day 10) normalized AV conduction and abolished the PVC. Follow up EKG and physical examination at 10 months after the illness was normal. The rhythm in patient 2 resolved to 1st degree AV block (with occasional morbitz type I second degree at night) on day 12. In this patient, exercise resulted in shortening of the PR interval and Valsalva maneuver resulted in further PR prolongation. The patient was well at 1-month follow up with a mormal EKG. Morbitz type I second degree AV block during recovery from dengue hemorrhagic fever may be a transient functional impairment of the AV node, in which altered autonomic tone may play a role.
 ...
PMID:Morbitz type I second degree AV block during recovery from dengue hemorrhagic fever. 1141 4

A 22-year-old woman had suffered from several episodes of acute pancreatitis since the age of 11. Other than exercise intolerance since early childhood, her psychomotor development was normal. At age 21, she experienced two episodes of generalized muscle weakness including acute respiratory failure and hepatomegaly. Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. Biochemical investigations demonstrated elevated serum creatine kinase and elevated 2-hydroxylglutaric, pyruvic, ethylmalonic, hippuric, adipic, and seburic acids in urinary organic acid analysis. These findings confirmed the diagnosis of glutaric aciduria type II. Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II. We treated the patient with l-carnitine and riboflavin. As of the latest follow-up 2.5 years later, the patient has had no further episodes of muscle weakness or pancreatitis. We suggested analyzing urine organic acid when lipid storage myopathy is suspected.
 ...
PMID:Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. 1535 Oct 24

A 3-month-old male Golden Retriever puppy was evaluated for lethargy and fever of 2-days duration. Results of a CBC and biochemical profile revealed marked eosinophilia (6.3 X 10(3)/microL; reference interval 0.1-1.2 X 10(3)/microL), moderate thrombocytopenia, and increased activities of alanine aminotransferase, aspartate aminotransferase, and creatine kinase. Hepatomegaly and peritoneal effusion were found using abdominal ultrasound. Peritoneal fluid analysis revealed eosinophilic inflammation (23,000 nucleated cells/microL with 88% eosinophils). Despite supportive treatment the puppy's condition deteriorated rapidly; euthanasia was requested, and a necropsy performed. Microscopically, there was marked necrosuppurative and eosinophilic hepatitis with vasculitis. Numerous hepatocytes contained protozoal organisms suspected to be Toxoplasma gondii or Neospora caninum. However, serum was negative for both T gondii and N caninum antibodies; polymerase chain reaction assay on hepatic tissue was negative for both organisms; and immunohistochemical evaluation of hepatic tissue using serum raised against T gondii, N caninum, and Sarcocystis neurona also was negative. Schizont morphology suggested that merozoites replicated by endopolygeny, forming rosettes around a central residual body. Transmission electron microscopy revealed that merozoites lacked rhoptries. These findings were consistent with a diagnosis of Sarcocystis canis, an apicomplexan parasite with an unknown life cycle.
 ...
PMID:Fatal hepatic sarcocystosis in a puppy with eosinophilia and eosinophilic peritoneal effusion. 1696 26

Propofol (2, 6-diisopropylphenol) is a potent intravenous hypnotic agent that is widely used in adults and children for sedation and the induction and maintenance of anaesthesia. Propofol has gained popularity for its rapid onset and rapid recovery even after prolonged use, and for the neuroprotection conferred. However, a review of the literature reveals multiple instances in which prolonged propofol administration (>48 hours) at high doses (>4 mg/kg/h) may cause a rare, but frequently fatal complication known as propofol infusion syndrome (PRIS). PRIS is characterized by metabolic acidosis, rhabdomyolysis of both skeletal and cardiac muscle, arrhythmias (bradycardia, atrial fibrillation, ventricular and supraventricular tachycardia, bundle branch block and asystole), myocardial failure, renal failure, hepatomegaly and death. PRIS has been described as an 'all or none' syndrome with sudden onset and probable death. The literature does not provide evidence of degrees of symptoms, nor of mildness or severity of signs in the clinical course of the syndrome. Recently, a fatal case of PRIS at a low infusion rate (1.9-2.6 mg/kg/h) has been reported. Common laboratory and instrumental findings in PRIS are myoglobinuria, downsloping ST-segment elevation, an increase in plasma creatine kinase, troponin I, potassium, creatinine, azotaemia, malonylcarnitine and C5-acylcarnitine, whereas in the mitochondrial respiratory electron transport chain, the activity of complex IV and cytochrome oxidase ratio is reduced. Propofol should be used with caution for sedation in critically ill children and adults, as well as for long-term anesthesia in otherwise healthy patients, and doses exceeding 4-5 mg/kg/h for long periods (>48 h) should be avoided. If PRIS is suspected, propofol must be stopped immediately and cardiocirculatory stabilization and correction of metabolic acidosis initiated. So, PRIS must be kept in mind as a rare, but highly lethal, complication of propofol use, not necessarily confined to its prolonged use. Furthermore, the safe dosage of propofol may need re-evaluation, and new studies are needed.
 ...
PMID:Propofol infusion syndrome: an overview of a perplexing disease. 2002 84


<< Previous 1 2 3 4 Next >>