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Carnitine
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151	sensitivity legend sensitivity >= 95% sensitivity >= 95% but with problem exons sensitivity 75-95% sensitivity < 75% mutation spectrum not well defined Add to Reading List Source URL: www.childrensmercy.org Language: English - Date: 2013-01-24 13:42:29 Genetics Genodermatoses Rare diseases Syndromes X-linked recessive inheritance 3-Methylglutaconic aciduria Congenital muscular dystrophy Epidermolysis bullosa Carnitine palmitoyltransferase II deficiency Health Medicine Genetic genealogy
152	Overview of Newborn Screening for Fatty Acid Oxidation Disorders – For Parents What is newborn screening? Before babies go home from the nursery, they have a small amount of blood taken from their heel to test for a gr Add to Reading List Source URL: www.in.gov Language: English - Date: 2014-10-23 17:39:47 Hepatology Fatty acids Fatty-acid metabolism disorder Fatty acid metabolism Very long-chain acyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Carnitine palmitoyltransferase I deficiency Carnitine Newborn screening Health Medicine Rare diseases
153	Dear Sirs: Notice is hereby given pursuant to the requirements of section 4@(r[removed]:S.C: the0,, .i- ,-, 343(r)(6)) of the Federal Food, DrUg and Cosmetic Act and,in ,gqcqrd,ance ..“,with ,a.Iii-,. Add to Reading List Source URL: www.fda.gov Language: English* - Date: 2003-11-04 17:30:21 B vitamins Dietary supplements Orthomolecular medicine Vitamin C Vitamin Carnitine Niacin Polyphenol Chemistry Nutrition Medicine
154	Guidance for Industry and FDA Staff Class II Special Controls Guidance Document: Newborn Screening Test Systems for Amino Acids, Free Carnitine, and Acylcarnitines Using Add to Reading List Source URL: www.fda.gov Language: English - Date: 2004-11-19 11:59:18 Technology Medical device Center for Devices and Radiological Health Federal Food Drug and Cosmetic Act Newborn screening Carnitine Validation Design controls Amino acid Medicine Health Food and Drug Administration
155	NEWBORN SCREENING FACT SHEET CPT-2 Deficiency (Carnitine Palmitoyl Transferase Deficiency, CACT, Type 2) in infancy. Most people do not have symptoms until their teen years or early adulthood. This is called classic form Add to Reading List Source URL: www.ndhealth.gov Language: English - Date: 2009-02-19 11:31:59 Fatty-acid metabolism disorder Hepatology Carnitine Newborn screening Carnitine-acylcarnitine translocase deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency Health Medicine Rare diseases
156	August 16,2005 Office of Nutritional Products Labeling and Dietary Supplements Division of Compliance and Enforcement Dietary Supplements Branch @ IFS-810) Food and Drug Administr&ion 200 “C” St. S.W. Add to Reading List Source URL: www.fda.gov Language: English - Date: 2005-11-15 09:26:13 Quaternary ammonium compounds Carnitine Acetylcarnitine Acetyl Food and Drug Administration Chemistry Dietary supplements Organic chemistry
157	NEWBORN SCREENING FACT SHEET CTD/CUD (Carnitine Transporter Deficiency) (Carnitine Uptake Deficiency) What is it? CTD stands for carnitine transporter deficiency. Add to Reading List Source URL: www.ndhealth.gov Language: English - Date: 2009-02-19 11:31:59 Hepatology Rare diseases Systemic primary carnitine deficiency Carnitine Fatty-acid metabolism disorder Newborn screening Disease Health Medicine Epidemiology
158	NEWBORN SCREENING FACT SHEET LCHADD (Long Chain 3-Hydroxyacyl-CoA Dehydrogenese Deficiency) What is it? LCHADD stands for long chain 3-hydroxyacylCoA dehydrogenase deficiency. It is one type of fatty acid oxidation disor Add to Reading List Source URL: www.ndhealth.gov Language: English - Date: 2009-02-19 11:31:59 Fatty-acid metabolism disorder Hepatology Hypoglycemia Mitochondrial trifunctional protein deficiency Carnitine Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Newborn screening Adipose tissue Carnitine-acylcarnitine translocase deficiency Health Medicine Rare diseases
159	` NEWBORN SCREENING FACT SHEET VLCADD (Very Long Chain Acyl-CoA Dehydrogenese Deficiency) It is common for babies and children with the Add to Reading List Source URL: www.ndhealth.gov Language: English - Date: 2009-02-19 11:32:01 Very long-chain acyl-coenzyme A dehydrogenase deficiency Fatty-acid metabolism disorder Hepatology Hypoglycemia Carnitine Newborn screening Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Carnitine-acylcarnitine translocase deficiency Glycogen storage disease type I Health Medicine Rare diseases
160	MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BUREAU OF LABORATORIES Newborn Screening – Fatty Acid Oxidation Disorders Rev. Date[removed] Add to Reading List Source URL: www.michigan.gov Language: English - Date: 2013-03-15 16:30:13 Fatty acids Fatty-acid metabolism disorder Newborn screening Thiolase 2 4 Dienoyl-CoA reductase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency Fatty acid metabolism Carnitine Health Medicine Chemistry

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