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Clinically, MCADD or another fatty acid oxidation disorder is suspected in individuals who present with lethargy, seizures, coma and hypoketotic hypoglycemia, particularly if triggered by a minor illness. MCADD can also present with acute liver disease and hepatomegaly, which can lead to a misdiagnosis of Reye syndrome. In some individuals, the ...
Treatment and management of VLCAD deficiency involve dietary restrictions as well as implementation of proper hydration to avoid further complications. Hospitalization due to VLCAD deficiency can be treated with intravenous (IV) glucose for hydration and alkalization of urine and prevention of renal malfunction or failure. [10]
In addition to the fetal complications, they can also cause complications for the mother during pregnancy. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD, and VLCADD [5] Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency
E.g., thiamine supplementation benefits several types of disorders that cause lactic acidosis. Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways; Dialysis; Enzyme replacement E.g. Acid-alpha glucosidase for Pompe disease; Gene therapy; Bone marrow or organ transplantation; Treatment of symptoms ...
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency or MCADD), caused by mutations in the ACADM gene; Mast cell activation disorder, a disease; Microsoft Certified Application Developer; Mechanical computer-aided design
Chromosome 12. SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter. [8] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids.
SUDC is rare, with a reported incidence in the United States of 1.2 deaths per 100,000 children, compared to 54 deaths per 100,000 live births for SIDs. There are approximately 400 deaths per year of SUDC in the U.S, with over 200 of these cases being the children aged 1–4 years. [3] SUDC deaths have occurred at the following sites: [4]
Children exposed to lead at a young age will also have an increased chance of developing ADHD. Brain injuries could cause ADHD, yet only a small number of children diagnosed fit into this category. Researchers have looked into sugar intake as the cause of ADHD, but have found little to support that theory. [13]