Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three children in two families presented in early childhood with episodes of illness associated with fasting which resembled Reye's syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. One child died with cerebral edema during an episode. Clinical studies revealed an absence of ketosis on fasting (plasma beta-hydroxybutyrate less than 0.4 mmole/liter) despite elevated levels of free fatty acids (2.6-4.2 mmole/liter) which suggested that hepatic fatty acid oxidation was impaired. Urinary dicarboxylic acids were elevated during illness or fasting. Total carnitine levels were low in plasma (18-25 mumole/liter), liver (200-500 nmole/g), and muscle (500-800 nmole/g); however, treatment with L-carnitine failed to correct the defect in ketogenesis. Studies on ketone production from fatty acid substrates by liver tissue in vitro showed normal rates from short-chain fatty acids, but very low rates from all medium and long-chain fatty acid substrates. These results suggested that the defect was in the mid-portion of the intramitochondrial beta-oxidation pathway at the medium-chain acyl-CoA dehydrogenase step. A new assay for the electron transfer flavoprotein-linked acyl-CoA dehydrogenases was used to test this hypothesis. This assay follows the decrease in electron transfer flavoprotein fluorescence as it is reduced by acyl-CoA-acyl-CoA dehydrogenase complex. Results with octanoyl-CoA as substrate indicated that patients had less than 2.5% normal activity of medium-chain acyl-CoA dehydrogenase. The activities of short-chain and isovaleryl acyl-CoA dehydrogenases were normal; the activity of long-chain acyl-CoA dehydrogenase was one-third normal. These results define a previously unrecognized inherited metabolic disorder of fatty acid oxidation due to deficiency of medium-chain acyl-CoA dehydrogenase.
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PMID:Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. 664 97

Four patients are described, admitted during a three-year period, who recovered from acute fatty liver of pregnancy; vomiting and jaundice were the main manifestations of the disease; coma and anuria were absent. During the same period, we observed one patient who died of acute fatty liver of pregnancy. This experience suggests that the non-fatal form of the disorder may be much commoner than the fatal form.
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PMID:Non-fatal acute fatty liver of pregnancy. 683 29

The pathogenesis of acute fatty liver of pregnancy is unknown, but similarities in the clinical presentation and the histological appearance of the liver with those found in children with metabolic defects in the intramitochondrial beta-oxidation pathway of the liver suggest that a disturbance in hepatic fatty acid oxidation may play a role. We report a woman with acute fatty liver of pregnancy who gave birth to a seemingly normal full-term infant who was seen at 4 mo of age with hypoglycemia, coma and profound hepatic steatosis. The infant had a defect in fatty acid oxidation, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, and the mother proved to be heterozygous for this metabolic condition. We hypothesize that the interaction of an affected fetus with a female heterozygous for this defect in fatty acid oxidation in the late third trimester accounts for some cases of acute fatty liver of pregnancy.
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PMID:Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 829 91

Blood parameters, feed intake and milk yield were determined in 53 cows with a left displacement of the abomasum (LDA) on the day of surgery (ds; laparotomy and omentopexy) and during the following four days (d1-d4). Using histological methods severe (group SF), moderate (group MF) or no/mild (group NF) fatty liver was found in 32%, 40% and 28% of the patients, respectively. Moderate and severe fatty liver were found almost exclusively in cows in the first three weeks post partum. Post surgery, feed intake and daily milk yield increased steadily in cows of the NF- and MF-group; in cows suffering from severe fatty liver feed intake remained low (p < 0.05). On ds, mean serum levels of nonesterified fatty acids (NEFA), beta-hydroxybutyrate (BHB), total bilirubin, aspartate aminotransferase (ASAT), gammaglutamyl transpeptidase (GGT) and glutamic dehydrogenase (GLDH) in SF-cows were significantly (p < 0.05) higher and values of cholesterol significantly lower (p < 0.05) as compared to the NF- and MF-group; no significant differences were found between the groups in mean serum glucose concentrations. In the four day period following surgery, in all groups mean serum levels of ASAT, GGT, GLDH and cholesterol remained nearly unchanged, whereas total bilirubin, NEFA, BHB and glucose decreased significantly (p < 0.05). Apart from LDA, 55% of the patients were suffering from mastitis, endometritis or lameness. Within three weeks post surgery, 3 cows of the SF-group and 1 cow of the MF-group developed recumbency and liver coma, and were culled for that reason. In conclusion, post surgical convalescence of cows with LDA is clearly related to disturbances of energy metabolism and fatty liver. Therefore, successful treatment of cows suffering from LDA requires the effective treatment of excessive lipomobilization, ketosis and fatty liver along with the immediate surgical correction of LDA.
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PMID:Post surgical convalescence of dairy cows with left abomasal displacement in relation to fatty liver. 876 92

A woman with acute fatty liver of pregnancy developed fulminant hepatic failure after delivery, a time when spontaneous recovery was expected. Pancreatitis and multiple organ failure was documented and intensive treatment in a critical care unit was needed to support organ function. She underwent plasmapheresis due to extreme hyperbilirubinemia and coma. She recovered completely.
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PMID:[Acute fatty liver of pregnancy complicated by pancreatitis]. 930 75

In forty-five Holstein Frisian dairy cows (1-6 weeks post partum; mean age: 5.1 +/- 1.2 years) the serum total bile acid concentrations (SBA) were measured enzymatically. In all cows a left sided abomasal displacement was corrected surgically by right side laparotomy and omentopexy three days before investigation. The liver fat content was determined in all cows histologically. Liver failure was assumed if typical clinical signs (ataxia, general depression, recumbency or coma), an increased venous plasma ammonia level (> 35 mumol/l) and a decreased plasma amino acid index (< 4.0) were found. Cows without liver failure (N = 29) were grouped according to the liver fat content as cows with mild (N = 5), moderate (N = 19) or severe hepatosteatosis (N = 5). Histological examination of liver biopsies in cows with liver failure (N = 16) revealed in twelve cases a severe fatty liver and in four cases a hydropic degeneration of the liver tissue. Although in cows without liver failure mean SBA concentrations were higher in the group with moderate (47.3 +/- 30.9 mumol/l) or severe fatty liver (32.9 +/- 21.7 mumol/l) than in that with mild lipidosis (18.0 (16.8 mumol/l), differences were not significant. The mean SBA concentration in cows with liver failure (70.5 +/- 49.5 mumol/l) was only significantly (p < 0.05) increased compared to cows with uncomplicated mild hepatic lipidosis. In conclusion, the determination of SBA concentrations is of little value in the recognition of fatty liver or even liver failure due to the considerable variance of SBA concentrations in dairy cows.
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PMID:Total serum bile acid concentrations in dairy cows with fatty liver and liver failure. 1002 57

A 5-year-old white female presented with coma and died unexpectedly. She had a history of recurrent episodes of febrile illnesses associated with lethargy and coma. Postmortem investigation revealed a fatty liver, leading to a suspicion of inborn error of fatty acid oxidation. The diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was suggested by abnormal acylcarnitine profile with increased octanoylcarnitine in the blood, and confirmed by fatty acid oxidation studies and mutation analysis in skin fibroblast cultures. This case emphasizes the need to consider fatty acid oxidation disorders in all children who present with hypoglycemia with absent or mild ketones in the urine and high anion gap metabolic acidosis.
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PMID:Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child. 1060 24

The prevalence of individual hereditary metabolic diseases is low, but together they constitute an important group in which pregnancy is of growing interest because patients more often reach adulthood and consider progeny. Hereditary metabolic diseases of the woman, such as hyperhomocystinemia or urea cycle defect, can present during or directly after pregnancy for the first time with thrombosis or coma, respectively. Other hereditary metabolic diseases of the woman, such as glycogen storage disease type I or III, can progress during pregnancy and may result in renal insufficiency or cardiomyopathy. Maternal hereditary metabolic diseases, such as poorly controlled hyperhomocystinemia or phenylketonuria, can deleteriously affect the foetus. Hereditary metabolic diseases of the foetus may have implications for the foetus itself, e.g., lysosomal storage diseases of the foetus may cause hydrops foetalis, cardiomyopathy, or foetal demise. In addition, hereditary defects of long chain fatty acid oxidation of the foetus may result in severe haemolysis and elevated liver enzymes and low platelets, or acute fatty liver of pregnancy in the mother.
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PMID:[Inherited metabolic diseases and pregnancy: consequences for mother and child]. 1262 77

Hyperlactataemia is seen in 8-18.3% of HIV-infected patients taking nucleoside-analogue reverse transcriptase inhibitors (NRTIs). Recent epidemiological studies suggest that most episodes are transient and subclinical. However, symptomatic and occasionally life-threatening cases accompanied by metabolic acidosis and hepatic steatosis (ie, lactic acidosis syndrome) have also been described. Though yet to be fully elucidated, the proposed mechanism is NRTI-induced inhibition of mitochondrial DNA polymerase culminating in derangements in oxidative phosphorylation and lactate homeostasis. Signs and symptoms range from mild hyperlactataemia accompanied by nausea, abdominal discomfort, and weight loss to severe, intractable lactic acidosis complicated by coma and multi-organ failure. Significant progress has recently been made with regard to the natural history of NRTI-related hyperlactataemia. However, other important aspects of the disorder, such as its pathogenesis, predisposing conditions, and management, remain poorly understood. This article reviews the current published work on these issues, identifies areas of controversy, and addresses directions for future research.
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PMID:Hyperlactataemia syndromes associated with HIV therapy. 1452 59

Hepatic steatosis together with lactic acidosis is a life threatening side effect in HIV infected patients receiving highly active antiretroviral therapy (HAART). We describe 5 patients developing hepatic drug toxicity during longterm treatment with nucleoside reverse transcriptase inhibitors. The main clinical symptoms included abdominal pain, fever, and neurological disorders. Serum lactate levels were elevated leading to severe metabolic acidosis in 3 cases. Liver biopsies revealed extensive macro- and microvesicular steatosis. Mitochondrial alterations were detected by electronmicroscopy. Microvesicular steatosis was seen in one case with elevated liver enzymes, but normal serum lactate levels, and was most extensive in a patient with a severe lactic acidotic coma. We conclude that detection of microvesicular steatosis and mitochondrial alterations in liver biopsies may help to identify the development of a nucleoside induced hepatopathy before the onset of severe lactic acidosis.
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PMID:[Nucleoside induced hepatopathy in HIV patients. Diagnostic value of liver biopsy assessment]. 1517 22


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