Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reviewed clinical data in 33 patients with transient hyperammonemia of the newborn (THAN): six previously unreported cases and 27 from the literature. Thirteen neonates with urea cycle enzyme deficiencies (UCED) served for comparison. No differences were found in the incidence of perinatal complications, route of delivery, Apgar scores, sex, or incidence or time of onset of seizures. On the other hand, neonates with THAN had significantly lower birth weights (mean +/- SEM 2282 +/- 78 gm vs 3336 +/- 222 gm, P less than 0.001) and gestational ages (35.1 +/- 0.5 weeks vs 39.6 +/- 0.5 weeks, P less than 0.001). Mean time of onset of respiratory distress (3.9 +/- 1.4 hours vs 71.5 +/- 26.1 hours, P less than 0.001), ventilatory support (P less than 0.001), lethargy (P less than 0.005), and coma (P less than 0.005) occurred earlier in THAN. Distinctive laboratory findings in patients with THAN included abnormal chest radiographic findings and plasma ammonium concentrations that were higher (1871 +/- 209 microM vs 973 +/- 169 microM, P less than 0.02) at an earlier age. Respiratory distress occurred in all but one patient with THAN before 24 hours; in contrast, only 62% of infants with UCED had respiratory symptoms, and none before 30 hours. In this retrospective study, the clinical presentation alone differentiated THAN from UCED.
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PMID:Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation. 405 69

A study of the effects of 4 milk preparations on the early growth of low birth-weight newborns in Ceylon is reported. The following parameters were studied: mortality; weight gain; tolerance, as indicated by the incidence of diarrhea and the presence of sugar in the stools; blood glucose levels; and blood urea and serum sodium levels. A powdered and partially skimmed cow's milk, Nestogen, was used as it is available in the government hospitals throughout the island. 2 strengths constituted Formulas 1 and 2, and by addition of sucrose to the latter, a 3rd of higher calorie value was prepared. The 4th formula was breast milk. The study population from 3 nurseries consisted of 112 babies between 1250 and 2057 grams birth-weight, those of lighter weight being excluded as many required intravenous therapy initially. Weights were checked daily, and as soon as babies were able to suck adequately, they were allowed home. Mean blood glucose levels were within the normal range in babies appropriate and small for gestational age on all 4 milks. There was a high incidence of diarrhea among babies on all 3 Nestogen formulas. On Formulas 1 and 2, diarrhea occurred between the 4th and 12th day, and, in all cases, preceded weight loss and dehydration. Babies with diarrhea on Formula 3 showed symptoms between the 3rd and 5th days, and in each case lethargy, weight loss, dehydration, and in some, fever, were followed by diarrhea. Blood urea nitrogen levels increased with the protein content of the diet and may have reflected a diminished extra cellular fluid volume due to extra renal fluid losses. Mortality rates were similar in the Nestogen fed babies; no breast fed babies died. In sum, the comparison showed breast milk to be overall superior for those who could suck. A higher protein feed was associated with more rapid weight gain but addition of sucrose produced intolerance. Higher strengths of Nestogen which obligate greater urinary fluid are probably unsafe in a hot climate which induces considerable insensible losses of water.
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PMID:Feeding studies in Ceylonese babies. 449 4

Toxic irreversible encephalopathic syndromes developed in 2 patients treated with lithium carbonate and haloperidol. Symptoms consisted of lethargy, fever, tremulousness, confusion, and extrapyramidal and cerebellar dysfunction, accompanied by leucocytosis and elevated serum enzyme, blood urea nitrogen, creatinine and fasting blood glucose levels. One patient suffered widespread irreversible brain damage; the other was left with persistent dyskinesias. Although causal factors have not been identified, this report and others in the literature suggest that diffuse irreversible encephalopathy may occasionally develop in individuals with abnormal brain sensitivity to the lithium carbonate/haloperidol combination. Evidence for this is based on the fact that in our patients and others mentioned in the literature the dosage and blood levels of lithium were not high.
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PMID:Toxic irreversible encephalopathy induced by lithium carbonate and haloperidol. A report of 2 cases. 641 23

All individuals receiving valproic acid therapy in an institution for the mentally retarded were evaluated for hyperammonemia. Of these 19 adults, 6 had persistent and 5 others had intermittent hyperammonemia. The hyperammonemic patients were asymptomatic, except that 2 had occasional lethargy. Hyperammonemia was detected more often in younger adults and in those treated with multiple anticonvulsants, especially phenytoin. Valproate-induced hyperammonemia is probably the result of depletion of mitochondrial acetyl CoA and decreased production of N-acetylglutamate, the obligatory activator of the first enzyme of the urea cycle, carbamyl phosphate synthetase I. Anticonvulsant-mediated microsomal enzyme induction may also contribute.
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PMID:Valproic acid-induced hyperammonemia in mentally retarded adults. 642 25

Supravesical urinary diversion using a jejunal conduit may be associated with hyponatremia, hypochloremic-acidosis, hyperkalemia, azotemia, and a clinical picture of nausea, vomiting, dehydration, muscular weakness, elevated temperature, and lethargy. This syndrome is secondary to the loss of sodium chloride into the urine passing through the conduit and absorption of potassium and urea from it. Treatment and prevention of this syndrome consist of adequate supplements of sodium chloride and hydration. Intravenous hyperalimentation as the precipitating factor of a severe form of this syndrome and its successful management are described. The pathophysiology of the jejunal conduit syndrome is also discussed. Great selectivity and extreme caution are recommended with respect to the use of intravenous hyperalimentation in patients with jejunal conduits.
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PMID:The pathophysiology of the jejunal conduit syndrome and its exacerbation by parenteral hyperalimentation. 642 49

A recently introduced rodenticide containing N-3-pyridylmethyl N'-p-nitrophenyl urea (PNU), Vacor, was accidently ingested by a 25-month-old child, resulting in acute vomiting, lethargy, seizures, and hypoglycemia, as well as chronic evidence of autonomic and peripheral neuropathy and glucose intolerance. Treatment with niacinamide (nicotinamide), may have been of benefit since all problems were resolved within three months of ingestion. This agent (PNU) is remarkably similar chemically and toxicologically to alloxan and streptozocin, both potent beta-cell toxins. These similarities are not only important in regard to the antodite for PNU, but they also suggest that the toxin m,y cause long-term endocrinologic, neurlogic, and oncologic problems.
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PMID:Accidental ingestion of Vacor rodenticide: the symptoms and sequelae in a 25-month-old child. 644 44

Renal impairment in sarcoidosis is usually due to hypercalcaemia and nephrocalcinosis but can also be caused by granulomatous nephritis or interstitial nephritis without sarcoid granulomata. A variety of types of glomerulonephritis have also been described in sarcoidosis but these rarely cause impaired renal function. Renal failure as an isolated manifestation of sarcoidosis is uncommon. A 66-year-old woman presented with a 1-year history of lethargy, polyuria and nocturia. Clinical examination was unremarkable and she had impaired renal function (urea 18 mmol/l (108 mg%) and creatinine 380 mumol/l (4.3 mg%)). As her kidneys were normal in size, she underwent renal biopsy, which revealed granulomatous interstitial nephritis. Reevaluation showed no other evidence of sarcoidosis and she had impaired urinary acidification and concentrating capacities. Therapy with corticosteroids produced a marked improvement in symptoms and renal function. This case confirms the view that granulomatous sarcoid nephritis is steroid sensitive and that full recovery can be expected provided interstitial fibrosis and scarring do not occur.
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PMID:Reversible renal failure due to isolated renal sarcoidosis. 646 14

The main purpose of this work was to study changes in the balance of fluids, electrolytes and blood metabolites in neonatal piglets with severe transmissible gastroenteritis. Six two day old conventional piglets were infected with transmissible gastroenteritis virus while six others were used as normal controls. Blood samples were collected in heparin when the infected piglets were moribund. The following variables were measured: packed red cell volume, total plasma protein and bicarbonate, blood pH, blood urea nitrogen and plasma glucose, creatinine, chloride, inorganic phosphorus, sodium, potassium, magnesium and calcium. Vomiting and diarrhea appeared 12 to 24 hours postinoculation in the infected piglets and they were moribund one or two days later. Before becoming moribund, most of the piglets fell rapidly into a lethargic and comatose state. The most evident changes in their blood variables were an increase in packed cell volume, total protein, blood urea nitrogen, phosphorus and magnesium levels and a decrease in pH and bicarbonate concentration as well as a severe hypoglycemia. The results suggest that severe hypoglycemia coupled with metabolic acidosis and dehydration might be an important factor contributing to the high mortality rates caused by transmissible gastroenteritis in neonatal piglets. The hypoglycemia results from a combination of the inadequate glucose metabolism inherent to neonatal piglets and the acute maldigestion and malabsorption resulting from the diffuse and severe villous atrophy induced by the virus.
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PMID:Hypoglycemia: a factor associated with low survival rate of neonatal piglets infected with transmissible gastroenteritis virus. 647 97

A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is associated with numerous congenital and acquired conditions (Table 11). In some cases, such as urea cycle disorders, ammonia is the principal toxin. In other instances, such as portal systemic encephalopathy, it is but one of a number of metabolic disturbances, However, in either case hyperammonemic episodes should be treated aggressively to prevent coma, subsequent brain damage, or death. This involves restricting protein intake, providing adequate calories, and giving agents that remove accumulated nitrogen. Long-term therapy relies on diagnosing the specific disease rate. This rarely requires invasive procedures such as liver biopsy. In most cases measurement of plasma amino acids and urinary organic acids will identify the defect. Treatment involving restriction of nitrogen intake, vitamin supplementation, or stimulation of alternative pathways of waste nitrogen excretion can then be instituted. Early therapy, especially in patients with neonatal-onset hyperammonemia, is imperative to avoid severe brain damage. On this basis, the plasma ammonium level should be determined in virtually every newborn with lethargy, hypotonia, poor feeding, seizures, and/or respiratory distress of unclear origin (Table 12).
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PMID:Hyperammonemia. 651 17

Inborn errors of ureagenesis must be considered in the differential diagnosis of recurrent vomiting and lethargy in childhood. Elevations of liver enzyme levels are often present during these episodes and may lead to an erroneous diagnosis of hepatic encephalopathy. We studied two cases of urea cycle defects.
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PMID:Detection of urea cycle enzymopathies in childhood. 674 67


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