1/14. Displacement of hepatic ornithine carbamoyltransferase from mitochondria to cytosol in Reye's syndrome.In two patients with fatal Reye's Syndrome, total ornithine carbamoyltransferase (OCTase) activity in the liver was 50 and 75% of that found in three control livers. The levels of enzymatic activity would not be expected to have resulted in the 7- and 17-fold elevations in plasma ammonia levels found in the patients. Levels of 47 and 60% of the OCTase activity, however, were found in the cytosolic fraction compared to an average of 7% for control livers. Thus, the amount of enzymatic activity in the mitochondrial fractions was only 20 and 30% of that found in control mitochondrial fractions. This study suggests that, if only mitochondrial OCTase is active in the urea cycle, the decreases in functional enzyme found in Reye's Syndrome may be considerably greater than that reflected in total enzyme assays.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
2/14. Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring.A case of a 29-year-old woman who has had two episodes both clinically and biochemically consistent with acute fatty liver of pregnancy is described. These episodes occurred in two successive pregnancies, and liver biopsy confirmed the diagnosis in the second pregnancy. Both pregnancies were managed by prompt fetal delivery; on both occasions this led to a complete biochemical resolution of the liver function abnormalities. Two healthy babies were delivered by ceasarian sections. This case is of particular importance because a rapidly progressive and devastating illness developed in both infants, leading to death at 6 1/2 and 6 months, respectively. The illness in both babies was characterized by wide-spread fatty infiltration of several vital organs and a failure of any treatment to influence the outcome of that illness. Studies suggested that the illness in the children was caused by a still ill-defined disorder of fatty acid oxidation. The biochemical disorder evidenced in this family is discussed, in an attempt to shed light on the etiology of acute fatty liver of pregnancy.- - - - - - - - - - ranking = 3.9172780411351keywords = family (Clic here for more details about this article) |
3/14. A case of ornithine transcarbamylase deficiency with acute and late onset simulating Reye's syndrome in an adult male.A 15-year-old male was admitted to the hospital because of a disturbance of consciousness. He was in good mental and physical condition until the previous day, when he vomited and experienced a reduction of consciousness. He was brought to the hospital the day following the onset of symptoms. On admission the patient was stuporous. Neurological focal signs were not demonstrated. Computed tomographic (CT) scanning on admission showed no definite abnormality. Cerebrosprinal fluid had no pleocytosis. At this time, Reye's syndrome was suspected because of the acute change of consciousness and the presence of hyperammonemia. The disturbance of consciousness progressed and he became comatose on the day following admission. CT scanning showed that the suprasellar, ambient and quadrigeminal cisterns could almost not be detected and the bilateral ventricles were narrowed. The plasma aminogram demonstrated an elevation of alanine, lysine, glutamine, glutamic acid, aspartate and proline. Ketonuria was negative, but the urinary excretion of orotic acid was markedly increased. This data was indicative of the existence of an ornithine transcarbamylase (OTC) deficiency. The patient was died on the third day after hospitalization. The OTC activity in the liver was 10% of normal. Activities of other enzymes in the urea cycle were within normal limits. It is unusual that the symptoms of the enzyme deficiency occurred, both acutely and late at an adult age, as in this case. This case demonstrates that OTC deficiency should be considered in the differential diagnosis of hyperammonemia of adult onset.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
4/14. Medium-chain acyl-coa dehydrogenase deficiency.Medium-chain acyl-coa dehydrogenase (MCAD) deficiency is the most frequently diagnosed defect in fatty acid metabolism and is one of the most common inborn errors of metabolism. diagnosis may be difficult, since the disorder may present as hypoglycemia, sudden infant death syndrome or a Reye's syndrome-like illness. Because of the abrupt clinical deterioration seen with MCAD deficiency, as well as its treatable nature and its genetic implications, this disorder presents a significant challenge for family physicians.- - - - - - - - - - ranking = 3.9172780411351keywords = family (Clic here for more details about this article) |
5/14. behavior management of aggressive sequela after Reye's syndrome.This study describes the use of behavior management procedures to reduce the occurrence of severe behavioral sequela in a 14-year-old, post-Reye's syndrome male. Prior to intervention the client exhibited severe self-injurious, hyperaggressive, and food refusal behaviors that precluded any opportunities for rehabilitation, placed him at severe medical risk, and made him a candidate for institutional placement. With contingent restraint, in vivo desensitization, and reinforcement contingencies it was possible to control these behaviors and begin intensive rehabilitation. Subsequently, the client returned to his family and community day school for the severely handicapped where he remains five years later.- - - - - - - - - - ranking = 3.9172780411351keywords = family (Clic here for more details about this article) |
6/14. Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.carnitine deficiency occurring in families has been rarely reported and the genetic transmission has not yet been clearly elucidated. Five members of one family showing marked heterogeneity of carnitine deficiency states are presented. In three patients, there was no correlation between measurable carnitine levels in serum and muscle and the clinical findings. The parents, who are remote relatives from an isolated village in Kurdistan (iraq), had low muscle carnitine levels; however, they were asymptomatic. One son, with systemic carnitine deficiency causing muscle weakness and recurrent episodes of severe hepatic encephalopathy, died at 3 years of age. His brother had mild proximal muscle weakness associated with low muscle carnitine levels. He was successfully treated with L-carnitine and prednisone. A daughter is asymptomatic, but with low serum and muscle levels of carnitine. The marked heterogeneity of carnitine deficiency states within one family, where both parents had low muscle carnitine levels, suggests an autosomal recessive inheritance with variable expression.- - - - - - - - - - ranking = 7.8345560822703keywords = family (Clic here for more details about this article) |
7/14. Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme a dehydrogenase deficiency.A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as reye syndrome presented to an emergency room in hypoglycemic coma and was found to have medium-chain acyl-coenzyme a dehydrogenase deficiency. The salient clinical and biochemical features of this newly described inborn error of fatty acid metabolism are described and contrasted to those of classical reye syndrome. Important clues that should lead the clinician to suspect this disorder, methods of diagnosis, and appropriate acute and long-term therapy are also discussed.- - - - - - - - - - ranking = 3.9172780411351keywords = family (Clic here for more details about this article) |
8/14. Recognition of medium-chain acyl-coa dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.The medium-chain acyl-coa dehydrogenase (MCAD) deficiency of mitochondrial beta oxidation has been identified in two asymptomatic siblings in a family in which two previous deaths had been recorded, one attributed to sudden infant death syndrome and the other to reye syndrome. Recognition of this disorder in one of the deceased and in the surviving siblings was accomplished by detection of a diagnostic metabolite, octanoylcarnitine, using a new mass spectrometric technique. This resulted in early treatment with L-carnitine supplement in the survivors, which should prevent metabolic deterioration. Further studies suggest that breast-feeding may be protective for infants with MCAD deficiency. Families with children who have had reye syndrome or in which sudden infant death has occurred are at risk for MCAD deficiency. We suggest that survivors and asymptomatic siblings should be tested for this treatable disorder.- - - - - - - - - - ranking = 3.9172780411351keywords = family (Clic here for more details about this article) |
9/14. Abnormalities of hepatic mitochondrial urea-cycle enzyme activities and hepatic ultrastructure in acute fatty liver of pregnancy.Two patients presenting with acute fatty liver of pregnancy were studied. Because of similarities between acute fatty liver of pregnancy and Reye's syndrome, we investigated hepatic ultrastructure, urea-cycle enzyme activities, and plasma amino acids. Initial liver biopsies obtained 12 and 21 days after the onset of illness demonstrated microvesicular fat deposition and mitochondrial ultrastructural changes, including pleomorphism and abundant crystalline inclusions. In both biopsies, activity of the mitochondrial urea-cycle enzyme OTC was markedly below normal limits. Activity of the other mitochondrial urea-cycle enzyme, CPS, was low in one patient. Abnormalities of these enzymes persisted in second biopsies obtained at 9 and 28 weeks, respectively. By 44 weeks all urea-cycle enzyme activities had returned to normal in one patient. However, in the other patient OTC activity was still reduced at 52 weeks, although it had doubled in comparison to previous biopsies. Morphological changes of the mitochondria generally improved in parallel with the urea-cycle enzymes. plasma amino acids, obtained at the time of the initial biopsies, demonstrated a generalized hypoaminoacidemia with the exception of glutamate. Serial observations in patients with this rare disease indicate that there are similarities with Reye's syndrome, in particular, reduced activity of the mitochondrial urea-cycle enzymes. But there are important differences. (1) Enzymatic and ultrastructural abnormalities of mitochondria persist for a longer period of time than in Reye's syndrome. (2) Mitochondrial ultrastructure is different. (3) plasma amino acid profiles are different.- - - - - - - - - - ranking = 10keywords = cycle (Clic here for more details about this article) |
10/14. Reye's syndrome in an adult.Reye's syndrome or encephalopathy with fatty infiltration of the liver occurs mainly in childhood and to a lesser degree in adult age. This report concerns a rare adult case of this syndrome in europe. The different diagnostic steps are described, with special emphasis on the enzymatic disturbances of the Krebs-Henseleit cycle and on the morphological criteria needed to confirm the diagnosis.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
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