Chapter 1: Chromosome 1 1 A Cell Nucleus 39,333 bp 385 aa ACADM DNA Sequence 39,333 bp Name of Protein Chromosome Medium-cmedium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c Name of Gene 1 ACADM transcription Amino acid sequence mRNA 385 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenyme A dehydrogenase. Condition/Disease Medium-chain acyl-CoA dehydrogenase deficiency.

Description of Medium-chain acyl-CoA dehydrogenase deficiency Symptoms and characteristics Medium-chain acyl-CoA dehydrogenase deficiency is is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. 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 only manifestation of MCADD is sudden, unexplained death often preceded by a minor illness that would not usually be fatal. MCADD need to avoid fasting for Prolonged periods of time. Supplementation of simple carbohydrates or glucose during illness is key to prevent catabolism. Pictures used with permission from URL: http://www.newbornscreening.info/Parents/fattyaciddisorders/MCADD.html

Description of Medium-chain acyl-CoA dehydrogenase deficiency (cont.) Who is affected? Anyone, but the following have a higher risk: Northern European ancestry. Children, when both parents carry MCADD (which is out of 25%). People with a family history of Medium-chain acyl-CoA dehydrogenase deficiency. Outlook or quality of life Dehydrogenase levels go down and medium chain fatty acids build up in the liver and brain A person with MCADD cannot breakdown medium chain fatty acids for energy. If food cannot be tolerated (for instance when someone has the virus, cold, flu, etc.), the use of IV glucose (sugar) may be needed. There is a treatment for MCADD, not skipping any meals and eating frequently can prevent the symptoms of MCADD. Researcher: SS

References Genetics Home Reference. MCADD [online]. 2015. [cited 2015 March 4]. Available at URL: http://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency. NCBI. Genes: ACADM [online]. 2009. [cited 2015 March 4]. Available at URL: http://ghr.nlm.nih.gov/gene/ACADM. NCBI. Chromosomes: 1 [online]. 2014. [cited 2015 March 4]. Available at URL: http://ghr.nlm.nih.gov/chromosome/1.