medium-chain acyl-coa dehydrogenase

Download Medium-chain acyl-CoA dehydrogenase

Post on 01-Jan-2016

12 views

Category:

Documents

1 download

Embed Size (px)

DESCRIPTION

Medium-chain acyl-CoA dehydrogenase. US, January 6, 2013. Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats. Carnitine uptake defect. US, January 6, 2013. - PowerPoint PPT Presentation

TRANSCRIPT

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Medium-chain acyl-CoA dehydrogenaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Carnitine uptake defectUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Long-chain L-3-hydroxyacyl-CoA dehydrogenaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Trifunctional protein deficiencyUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Very long-chain acyl-CoA dehydrogenaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Glutaric acidemia type 1US, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.3-Hydroxy 3-methylglutaric aciduriaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Isovaleric acidemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.3-Methylcrotonyl-CoA carboxylaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Methylmalonic acidemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Beta ketothiolaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Methylmalonic acidemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Propionic acidemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Multiple carboxylaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Argininosuccinate acidemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Citrullinemia type 1US, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.HomocystinuriaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Maple syrup urine diseaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Phenylketonuria/hyperphenylalaninemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Tyrosinemia type 1US, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Hearing screeningUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Congenital hypothyroidismUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Congenital adrenal hyperplasiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Sickle cell diseaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.S-Beta thalassemiaUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Sickle-C diseaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.BiotinidaseUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Transferase deficient galactosemia (classical)US, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Cystic fibrosisUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Severe Combined ImmunodeficiencyUS, January 6, 2013

  • Footnotes available in notes section.Source: National Newborn Screening and Genetics Resource Center. Retrieved May 14, 2014, from www.marchofdimes.com/peristats.Critical Congenital Heart DefectsUS, January 6, 2013

    For more information on the core disorders, see the August 2004 report Newborn Screening: Toward a Uniform Screening Panel and Systems, developed by the American College of Medical Genetics and Evidence Review report on SCID, prepared by the Advisory Committee on heritable Disorders in Newborns and Children. For more detailed information on newborn screening status, please see the National Newborn Screening Status Report developed by the National Newborn Screening and Genetics Resource Center. Seemingly well infants and children can suddenly develop seizures (caused by low blood sugar), liver failure, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes avoidance of fasting and nutritional supplements. MCAD = Medium-chain acyl-CoA dehydrogenase deficiency For more information on the core disorders, see the August 2004 report Newborn Screening: Toward a Uniform Screening Panel and Systems, developed by the American College of Medical Genetics and Evidence Review report on SCID, prepared by the Advisory Committee on heritable Disorders in Newborns and Children. For more detailed information on newborn screening status, please see the National Newborn Screening Status Report developed by the National Newborn Screening and Genetics Resource Center. CUD = Carnitine uptake defect Due to a missing transporter, cells cannot bring in carnitine from the blood. Carnitine is needed for the transfer of fatty acids across the membranes of the mitochondria (cellular organelles that produce energy for the cell). Symptoms include episodes of hypoglycemia (low blood sugar) and sudden unexpected death in infancy. Older children may present with progressive heart failure. Early diagnosis and treatment with carnitine permits normal development. For more information on the core disorders, see the August 2004 report Newborn Screening: Toward a Uniform Screening Panel and Systems, developed by the American College of Medical Genetics and Evidence Review report on SCID, prepared by the Advisory Committee on heritable Disorders in Newborns and Children. For more detailed information on newborn screening status, please see the National Newborn Screening Status Report developed by the National Newborn Screening and Genetics Resource Center. LCHAD = Long-chain 3-OH acyl-CoA dehydrogenase deficiency Symptoms can begin soon after birth, resulting in heart, lung or liver failure and death. In other cases, symptoms such as low muscle tone, developmental delay, heart, lung or liver failure may develop later in infancy or childhood, most likely following an illness. Early diagnosis and treatment effectively prevent life-threatening events, though some children may still develop symptoms. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, and avoidance of fasting. Women who are pregnant with fetuses with LCHAD are at increased risk of developing acute fatty liver of pregnancy and other pregnancy complications. For more information on the core disorders, see

Recommended

View more >