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Results 1 - 10 of 229 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Mitochondrial trifunctional protein deficiency 
    ... These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  8. Farber lipogranulomatosis 
    ... 1177/002215540004800106. Citation on PubMed Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  9. Medium-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 ...
    https://medlineplus.gov/...m-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  10. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... 01.008. Citation on PubMed Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. Citation on ... Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
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