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Results 1 - 10 of 1,076 for S -"3-Hydroxyisobutyric" acid
  1. Hartnup disease 
    ... and symptoms of the condition. Hartnup disorder Hartnup's disease Neutral amino acid transport defect Genetic Testing Registry: Neutral 1 amino ... Epub 2007 Jun 7. Citation on PubMed Broer S. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  2. HADHB gene 
    ... These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the ... make the beta subunit. A change in amino acids probably alters the subunit's structure, which disrupts all three activities of the ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  3. Lysinuric protein intolerance 
    ... intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  4. Refsum disease 
    ... result, this substance builds up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear ... IV Phytanic acid storage disease Refsum syndrome Refsum's disease ... Retinitis pigmentosa National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  5. HADHA gene 
    ... These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the ... mutations replace one amino acid with another amino acid in the alpha subunit, which probably alters the subunit's structure and disrupts all three functions of the ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  6. UCHL1 gene 
    ... of serine at position 18 in the enzyme's chain of amino acids, people with the polymorphism have the amino acid ... UCHL1 gene may increase the risk of Parkinson's disease. This mutation has been ... the amino acid isoleucine with the amino acid methionine at position ...
    https://medlineplus.gov/genetics/gene/uchl1 - Genetics
  7. Fatty acid hydroxylase-associated neurodegeneration 
    ... 0181-3. Citation on PubMed Gregory A, Venkateswaran S, Hayflick SJ. Fatty Acid Hydroxylase-Associated Neurodegeneration. 2011 Jun 28 [updated 2018 ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  8. FA2H gene 
    ... 0181-3. Citation on PubMed Gregory A, Venkateswaran S, Hayflick SJ. Fatty Acid Hydroxylase-Associated Neurodegeneration. 2011 Jun 28 [updated 2018 ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  9. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the ... PubMed Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation ... Bennett MJ, Gibson B, Shapiro S, Strauss AW. The molecular basis of pediatric long ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  10. Very long-chain acyl-CoA dehydrogenase deficiency 
    ... acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the ... CHAIN, DEFICIENCY OF; ACADVLD PubMed ... FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G. Fatty acid oxidation flux predicts the clinical severity of VLCAD ...
    https://medlineplus.gov/...g-chain-acyl-coa-dehydrogenase-deficiency - Genetics
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