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Results 1 - 10 of 105 for Disorder of fatty acid metabolism
  1. Newborn screening tests 
    ... deficiency Congenital adrenal hyperplasia Congenital hypothyroidism Cystic fibrosis Fatty acid metabolism disorders Galactosemia Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human ...
    https://medlineplus.gov/ency/article/007257.htm - Medical Encyclopedia
  2. Adrenoleukodystrophy 
    ... Elsevier; 2022:chap 29. Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. ...
    https://medlineplus.gov/ency/article/001182.htm - Medical Encyclopedia
  3. Carnitine palmitoyltransferase I deficiency 
    ... of CPT I deficiency. Conditions that disrupt the metabolism of fatty acids, including CPT I deficiency, are known as fatty acid oxidation disorders. CPT1A This condition is inherited in an autosomal ...
    https://medlineplus.gov/...rnitine-palmitoyltransferase-i-deficiency - Genetics
  4. Lipid Metabolism Disorders (National Library of Medicine)  
    ... disorder, something goes wrong with this process. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
  5. 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... muscles, causing serious complications.Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders. HADH This condition is inherited in an autosomal ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  6. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
    https://www.marchofdimes.org/.../newborn-screening-tests-your-baby - External Health Links
  7. Chanarin-Dorfman syndrome 
    ... NLSDI Triglyceride storage disease with ichthyosis Triglyceride storage disease with impaired long-chain fatty acid oxidation Genetic Testing Registry: Triglyceride storage disease with ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  8. Primary carnitine deficiency 
    ... carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder. SLC22A5 This condition is inherited in an autosomal ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  9. CYP4V2 gene 
    ... CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. ...
    https://medlineplus.gov/genetics/gene/cyp4v2 - Genetics
  10. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Lipid Metabolism Disorders/Start Here
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
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