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)

A 9-month-old sexually intact male longhair cat was examined because of lethargy, anorexia, cold intolerance, and failure to thrive since acquisition at an early age. Clinical signs of disease were less pronounced when the cat was fed a low-protein diet. Anemia, hypoglycemia, low total CO2 content, and hyperammonemia were detected. The cat was euthanatized. Urine obtained immediately before euthanasia contained a large amount of methylmalonic acid. Total serum cobalamin concentration was low. Hepatic methylmalonic-CoA mutase activity, with and without the addition of coenzyme adenosylcobalamin, was consistent with a cobalamin deficiency. Methylmalonic acidemia secondary to a putative defect in cobalamin absorption was diagnosed.
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PMID:Cobalamin deficiency associated with methylmalonic acidemia in a cat. 150 Mar 7

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

The clinical and morphologic findings of three patients with metabolic acidosis, methylmalonic aciduria, and homocystinuria are presented. The clinical evolution of the patients was similar and was characterized in the first weeks of life by failure to thrive, hypotonia, and lethargy associated with pancytopenia and hepatic dysfunction, eventually progressing to severe respiratory insufficiency and renal failure consistent with a hemolytic-uremic syndrome. The patients died at 40, 45, and 75 days of age. Biochemical analyses and complementation studies revealed a congenital anomaly of vitamin B12 metabolism (cobalamin C disease). Postmortem morphologic findings in all three cases were dominated by a thrombotic microangiopathy of the kidneys and lungs, diffuse hepatic steatosis, and megaloblastic changes in the bone marrow. A severe gastritis with striking cystic dysplastic mucosal changes and total absence of parietal and chief cells was a consistent finding in all three cases, the rest of the gastrointestinal tract appearing essentially normal. Cobalamin C disease is an intracellular defect of cobalamin metabolism with possible recessive inheritance that can result in multiorgan failure early in life, with a thrombotic microangiopathy and unusual changes in the gastric mucosa.
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PMID:A congenital anomaly of vitamin B12 metabolism: a study of three cases. 156 46

Violent shaking causes severe injury in infants, but the diagnosis of shaken baby syndrome is often difficult to make because of the lack of obvious external signs. Consultations by other specialists may not be helpful, since the findings of most organ systems, taken in isolation, are usually nonspecific. Shaken baby syndrome should be considered in infants presenting with seizures, failure to thrive, vomiting associated with lethargy or drowsiness, hypothermia, bradycardia, hypertension or hypotension, respiratory irregularities, coma or death. Shaken babies are usually less than one year old, and most are under six months of age. Head injury (notably subdural hemorrhage) and retinal hemorrhages are the hallmarks of the syndrome.
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PMID:Shaken baby syndrome. 218 31

A 7-month-old male presented with lethargy and failure to thrive. The child was exclusively breast-fed from birth by a mother who was a strict vegetarian. Laboratory data revealed macrocytic anemia and methylmalonic acid in the urine, consistent with vitamin B12 deficient anemia. The patient responded well to supplementation with B12 alone and was developmentally normal by 11 months of age. This study emphasizes the need for assuring maternal dietary adequacy during pregnancy and after birth.
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PMID:Nutritional vitamin B12 deficiency in a breast-fed infant of a vegan-diet mother. 394 63

Two cases of infantile dumping syndrome which developed following Nissen fundoplication for gastroesophageal reflux are described. Both infants were fed postoperatively via a gastrostomy and showed the typical clinical picture of dumping with failure to thrive, intermittent diarrhea, lethargy and pallor postprandially. Several glucose tolerance tests were highly pathological with marked hyperglycemia immediately after a gastrostomy meal followed by hypoglycemia two hours later. In one case HbA1c was significantly elevated which is thought to be an expression of recurrent hyperglycemia. In both infants the first and most impressive clinical sign was absolute refusal or oral feeds. Normal oral food intake was slowly re-established after normalization of blood glucose homeostasis.
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PMID:Dumping syndrome following Nissen's fundoplication: a cause for refusal to feed. 642 40

Chronic depletion of body chloride developed in a group of infants ingesting a diet consisting almost exclusively of chloride deficient Neo-Mull-Soy. Ten of the 12 infants were on this diet three to five months before loss of appetite, failure to thrive, muscle weakness, and lethargy led to a diagnostic evaluation. The outstanding laboratory features were severe hypokalemic metabolic alkalosis, low urinary chloride concentrations (< 10 mEq/liter), and erythrocyturia. There was marked decrease in weight for age in all 12 infants. Head circumference for age had decreased in five of six and length for age in five of ten infants for whom earlier measurements were available. The biochemical abnormalities reverted to normal following dietary supplementation with either sodium or potassium chloride. Appetite, affect, and muscle strength improved, and weight gain resumed. Head circumference for age has moved toward the percentile level present prior to starting Neo-Mull-Soy in all instances. With one exception, length measurements show a similar pattern. The erythrocyturia has decreased or vanished. Chloride deficiency led to contraction of the extracellular volume and the substitution of poorly reabsorbable anions for readily reabsorbable chloride. These alterations caused development of the negative hydrogen ion and potassium balances which led to the hypokalemic metabolic alkalosis.
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PMID:The dietary chloride deficiency syndrome. 693 41

Pseudohypoaldosteronism has been described as a syndrome presenting early in life with profound salt wastage, failure to thrive, and lethargy. The mechanism of sodium loss is renal, not related to aldosterone production. Previous cases have been transient, responding to supplemental salt therapy which was discontinued after one to two years. A child whose pseudohypoaldosteronism was first diagnosed in infancy and whose salt loss persisted to 7 years of age is described.
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PMID:Persistent pseudohypoaldosteronism in a 7-year-old boy. 704 Oct 74

Congenital Adrenal Hyperplasia (C.A.H.) is an autosomal recessive disorder which is often life threatening during the neonatal period prior to establishment of the diagnosis and instigation of appropriate treatment. In females the condition is usually detected at birth due to genital ambiguity. Unfortunately males or extremely virilized females often remain undetected until they suffer a potentially fatal adrenal crisis. Typically, a crisis occurs within the first couple of weeks of life and is preceded by a history of failure to thrive, lethargy and vomiting which may be misdiagnosed as resulting from pyloric stenosis. Vascular collapse and diminished consciousness ensue if adrenal insufficiency remains undetected. Initial biochemical investigation of the shocked neonate with C.A.H. reveals severe hyperkalaemia and hyponatraemia, which initially may be thought to be due to renal failure. Hypoglycaemia may also be a feature. Initial resuscitation requires intravenous saline and hydrocortisone. Once physiologically stable, oral steroids are used to replace absent glucocorticoids and mineralocorticoids. The psychosocial impact of having a critically ill baby, with a relatively uncommon genetic disorder, who requires lifelong treatment can be overwhelming for parents. There is an ongoing risk of adrenal crisis throughout the child's life during periods of physiological stress. Parents require education on the management of medication during normal childhood illnesses; the early indicators of crisis and instruction in injection technique. In addition to skilled technical nursing interventions for their baby, parents can benefit from accurate information and contact with the C.A.H. support group.
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PMID:Congenital adrenal hyperplasia: a potential diagnosis for the neonate in shock. 762 Feb 64

This article describes the metabolic investigations to be applied in any clinical situation consistent with a late acute form of inborn error of metabolism: unexplained coma with or without focal neurological manifestations, recurrent vomiting with lethargy, episodes of ataxia with or without behaviour disorder, fits of psychiatric troubles. In each of these situations, careful medical history is of major importance searching for previous clinical manifestations such as episodes of coma, ataxia or vomiting, anorexia, failure to thrive, developmental delay, all very suggestive of metabolic disorder. The association of neurological symptoms and abnormal hepatic tests is also of great value and must not lead to the diagnosis of Reye's syndrome without considering a metabolic defect of fatty acid oxidation, urea cycle, respiratory chain, or Wilson's disease. When looking for an etiological origin, it is mandatory to collect all the biological information at the same time, also knowing that metabolic abnormalities may be mild and transitory, and that many of them are non specific (metabolic acidosis, hyperlactacidemia, hyperammonemia, hepatic tests disturbances) being encountered in collapsus, shock and multiple organ failure syndrome.
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PMID:[Diagnosis of metabolic coma in children]. 784 29


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