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)

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal metabolic disease, which is characterized by non-ketotic hypoglycemia and lethargy. The disease manifests itself by periodic attacks in connection with infections and periods of fasting, or suddenly as unexpected child death or "near miss". Characterization of a prevalent disease-causing mutation (G985) in the MCAD gene has increased the diagnostic possibilities, since 75% of all patients with MCAD deficiency are homozygous for the mutation. Analysis for this mutation in genomic DNA from a bloodspot on a PKU-card constitute today a certain and specific diagnosis for the disease in 75% of all cases. In the remaining 25% the mutation analysis is supplemented with urine metabolite studies by gas chromatography/mass spectrometry, and with measurements of enzyme activities in cultured skin fibroblasts. The disease is today considered more common than previously anticipated, since the incidence of patients with MCAD enzyme deficiency in Denmark is estimated to 1/27,000 newborns, or two new cases annually. The relationship between the enzyme defect (gene defect) and the clinical expression of the disease is a main subject for the clinical research in the disease at present, because less than 10% of all patients with the gene defect are diagnosed. This applies not only to Denmark but also to other countries.
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PMID:[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]. 153 77

Phenylketonuria (PKU) and maple syrup urine disease (MSUD) are disorders of the amino acid metabolism. Treatment of PKU and MSUD, is based on the restriction of the involved amino acids. Diet must begin very early in life in order to prevent neurological sequelae. A wrong dietary produce central nervous system damage. The first clinical manifestations are unexplained failure to thrive, vomiting, feeding difficulties, lethargy, coma, acidosis and irritability. The most severe consequence is impaired mental development. The standard exchange foods list (EFL) used in outpatient clinics, is designed for developed countries, and contains foods that are not available in our countries. Therefore, we provide in this article a EFL, based on food that are frequently used in Central America, with data of existing food composition tables. This list is currently being used by the Costa Rica national Children's Hospital Metabolic Disease Unit.
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PMID:[Lists of food exchanges for use in phenylketonuria and maple-syrup urine disease]. 877 22