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)

9 figures form the core of this article describing and discussing a case of sudden death, 2 hours after a 30-year old woman presented at a hospital emergency with chest pains. She had taken no medications other than oral contraceptives (OCs) for 10 years. The patient was admitted to the coronary care unit where findings included a palpable blood pressure of 94 mm of Hg, a heart rate of 128/min, and a respiratory rate of 28/minute. Cyanosis was noted, jugular veins were distended, and there were rales over the lung bases bilaterally; cardiac sounds were soft and a third heart sound was audible. Arterial oxygen tension was 15 mm of Hg, and carbon dioxide tension was 42 mm of Hg; pH was 7.2. Ventricular tachycardia developed and ventricular fibrillation ensued. The patient was intubated and well oxygenated, external cardiac compression was performed, sodium bicarbonate, epinephrine, and calcium were administered, and electrical defibrillation was performed. After several attempts, the latter resulted in a slow idioventricular rhythm on the electrocardiogram, but neither the blood pressure nor pulse was detectable. Asystole subsequently developed, and cardiac activity could not be restored. After discussion by a panel of physicians, the final anatomic diagnoses are chronic active nonspecific myocarditis; organizing and acute myocardial microvascular and endocardial mural thrombi; platelet-rich microthrombi in the heart, lungs, and liver; chronic passive pulmonary congestion and edema; and congestive hepatomegaly (2900 g). Any of these may be assciated with longterm OC usage.
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PMID:Chest pain, shock, arrhythmias and death in a young woman. 44 59

A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed. After birth the child had suffered from a severe respiratory distress syndrome, transient metabolic acidosis and had a sweaty feet odour. Later on, development was retarded with a severe muscular hypotonia. Post mortem, numerous unusual organic acids were found in high concentrations in urine, e.g. dicarbonic acids, 2-hydroxyisobutyric, isovaleric, 3-hydroxyisovaleric acid, N-acyl glycines, isovalerylglutamic acid and sarcosine. This pattern indicated deficiencies of several acyl-Co A dehydrogenases in the metabolism of leucine, isoleucine, valine, lysine, short-chain fatty acids and sarcosine. This could be confirmed using cultured skin fibroblasts which were shown to degrade the corresponding labeled substrates insufficiently to 14CO2. It is assumed that the functional multiple acyl-Co A dehydrogenation deficiency is caused by a deficiency of a common link in the electron transfer system of these dehydrogenases which is inherited autosomal recessively in this family. Among the 12 patients reported, 7 died within the first 5 days of age.
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PMID:Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. 686 97

We describe a patient with impairment of mitochondrial fatty acid P-oxidation. A Japanese baby boy was delivered in the 38th week of gestation by emergency cesarean section due to fetal asphyxia. His birth weight was 1,985 g (<10th percentile), length 44.8 cm (<10th percentile), and head circumference 31.0 cm (10th percentile). His Apgar scores were 3 and 5 at 1 min and 5 min, respectively. Blood glucose was 12 mg/dl at 1 hour after birth, requiring glucose administration. On day 1 his serum CK was 20,780 IU/l, which was thought to be due to asphyxia. His serum CK levels gradually began to decrease. At 3 months of age, he sucked poorly, had poor body weight gain, and muscle hypotonia was observed. On day 117 his general condition was impaired, and marked hepatomegaly was observed. The blood glucose level was 43 mg/dl. The patient's urine was negative for ketone bodies. His serum triglyceride level was 3,670 mg/dl. Abdominal CT scan revealed a fatty liver. Serum levels of acyl carnitine from very-long chain fatty acid increased. On day 118 he died due to ventricular fibrillation. On necropsy, massive lipid deposition was observed in the liver, cardiac muscle, kidney, skeletal muscle, and intestinal mucosa. The ratio of very-long chain acyl-CoA dehydrogenase (VLCAD) activity for C16/C8 fatty acid was 0.50 (normal control 1.29), suggesting abnormal VLCAD. He was diagnosed as having impairment of mitochondrial fatty acid beta-oxidation, presumably due to the VLCAD deficiency.
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PMID:A case of impairment of mitochondrial fatty acid beta-oxidation. 1212 6