1/13. 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.We report the case of a patient with 3-hydroxy-3-methylglutaric aciduria who presented with a repeat attack of Reye like syndrome clinically. vomiting and somnolence, generalized tonic and clonic convulsions with hepatomegaly, hyperammonemia, liver function impairment, and mild metabolic acidosis were the presenting signs. 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids were detected in the urine by gas chromatography-mass spectrometry. 3-methylglutarylcarnitine was also identified in the urine by fast atom bombardment and tandem mass spectrometry. Therefore, the possibility of metabolic disease should be considered in neonates and infants with repeat attacks of Reye like syndrome and a history of similarly affected siblings.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
2/13. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.BACKGROUND: hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period. CASE PRESENTATION: We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance. CONCLUSIONS: This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
3/13. Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.carnitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy with heart failure before 4 years of age. Other features such as hepatomegaly, hypoglycemia, or hyperammonemia were noted around 5 years of age. Her health improved with resolving cardiomyopathy after the use of L-carnitine (50-100 mg/kg/day). patients with SCD have high morbidity and mortality. If SCD is suggested as a cause of Reye-like syndrome or dilated cardiomyopathy, L-carnitine therapy should be initiated as a diagnostic test immediately, until the definite diagnosis is confirmed.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
4/13. Reye's syndrome without fatty liver.A 2 1/2-year-old child died after an illness of three days duration, characterized by a sudden onset, vomiting, coma and a striking hyperammonemia. At autopsy, the liver was practically normal. This is a further example of Reye's syndrome with only minimal fatty infiltration of the liver. It appears that the classical massive and diffuse fatty degeneration of the liver is not an essential feature of the syndrome. The evidence for this is discussed.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
5/13. Reye's syndrome developing in an infant on treatment of Kawasaki syndrome.aspirin is commonly used as an anti-inflammatory therapy for Kawasaki syndrome. Early initiation with high dose aspirin (80 to > 100 mg/kg per day), followed by low-dose therapy at the afebrile stage, has been often used to reduce morbidity and mortality in coronary complications. We report a 10-month-old infant who was diagnosed with Kawasaki syndrome. Sudden onset of poor activity, poor appetite, lethargy, tachycardia, tachypnea, hepatomegaly, increased AST/ALT, coagulopathy and hyperammonemia developed 3 days after the high-dose aspirin therapy. His histopathological and ultrastructural findings from the liver biopsy were compatible with Reye's syndrome. He recovered completely, and there was no recurrence.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
6/13. An autopsy case of Reye's syndrome associated with acute pancreatitis, acute renal failure and disseminated intravascular coagulopathy.A three-and-a-half-year-old boy was transferred to our hospital under the impression of Reye's syndrome. The laboratory data showed hypoglycemia, hyperammonemia and elevated serum transaminases. A remarkable high serum amylase level of 2,223 IU/L and CAm/CCr of 36% was noted. A blood urea nitrogen level of 143 mg/dl was found on the third day and a creatinine level of 8.7 mg/dl on the fourth day. Disseminated intravascular coagulopathy (DIC) and systemic candidal infection complicated his final course. He died after intensive treatment for eleven days. Hemorrhagic pancreatitis and fatty change of the liver were noted at autopsy. Disseminated candidal invasion was noted within the kidneys, cerebrum, and lungs. Tonsillar herniation, systemic candidiasis and bronchopneumonia were believed to be the causes of his death. It is extremely rare for all three complications, acute pancreatitis, acute renal failure and DIC, to occur in Reye's syndrome at the e time.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
7/13. 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 = 2keywords = hyperammonemia (Clic here for more details about this article) |
8/13. reye syndrome: rate of oxidation of fatty acids in leukocytes and serum levels of lipid peroxides.We examined the oxidation of different chain length fatty acids in the leukocytes and the quantity of lipid peroxides in the plasma of two reye syndrome patients. We have found that the oxidation of [1-14C] octanoic acid in homogenates of leukocytes from one of the reye syndrome patients was only 38 percent of the control, whereas oxidation of [1-14C] palmitic and [1-14C] lignoceric acid was slightly increased. The level of lipid peroxides in the serum of both of the reye syndrome patients was 4.42 and 3.04 times higher than the control level. These results suggest that impaired oxidation of medium chain fatty acids (octanoic acid) and higher levels of lipid peroxides may contribute to the pathogenesis of cellular toxicity in reye syndrome. reye syndrome (RS) was first described by Reye et. al. in 1963 and is now recognized as an important cause of morbidity and mortality in infants and children. The clinical course in RS consists of an antecedent viral illness with subsequent encephalopathy and hepatic dysfunction. Laboratory findings in RS include hypoglycemia, hyperammonemia, free fatty acidemia, elevated organic acids and amino aciduria. The ultrastructural findings in RS patients include changes in mitochondria, smooth endoplasmic reticulum morphology, and an increase in the number of peroxisomes. The elevation of serum free fatty acids in RS and their decrease in patients who improve clinically suggests a disturbance in fatty acid metabolism. To understand the role of free fatty acids in the pathogenesis of RS, we examined the levels of lipid peroxides in plasma and catabolism of fatty acids of different chain lengths in leukocytes from RS patients.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
9/13. carnitine prevents Reye-like syndrome in atypical carnitine deficiency.A patient with repeated episodes of a Reye-like syndrome was studied. serum and muscle carnitine levels were normal, but there was an apparent accumulation of muscle lipid and glycogen. Ragged-red fibers were present in the muscle. Prolonged fasting (20 hours) induced hypoglycemia, lactic acidosis, an increase in free fatty acids, and hyperammonemia. There was an accompanying sizeable reduction in the serum free carnitine level. fasting with L-carnitine administration resulted in milder changes in these laboratory measures. Administration of L-carnitine, (100 mg/kg/day) led to clinical improvement as evidenced by fewer attacks and a normal Gowers sign.- - - - - - - - - - ranking = 1keywords = hyperammonemia (Clic here for more details about this article) |
10/13. Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: a patient report.We report a 3-year-old Japanese girl who developed acute encephalopathy while receiving calcium hopantenate (calcium D-( )-4-(2, 4-dihydroxy-3,3-dimethylbutyramido) butyrate hemihydrate). She had hyperammonemia, elevated CPK, lactic acidemia and pyruvic acidemia, however, she did not show elevated SGOT or SGPT. calcium hopantenate has been used in japan for the treatment of mental retardation with behavior abnormalities. Recently there have been three reports on the occurrence of Reye-like syndrome in patients receiving this drug. Clinical signs and laboratory data of these patients are similar to those of reye syndrome. calcium hopantenate causes pantothenic acid deficiency in the young rat, which may reduce the content of coenzyme a. If this drug decreases coenzyme a biosynthesis, it may reduce beta-oxidation of fatty acids and levels of dicarboxylic acids would increase because of increasing omega-oxidation. We suspect that there is a possible relationship between the occurrence of acute encephalopathy and calcium hopantenate therapy.- - - - - - - - - - ranking = 5keywords = hyperammonemia (Clic here for more details about this article) |
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