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Results 1 - 10 of 253 for "±" -"2-Hydroxy-3-(2-hydroxyphenyl)propanoic" acid
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  1. Sialic acid storage disease 
    Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  2. Congenital bile acid synthesis defect type 1 
    Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  3. Lysosomal acid lipase deficiency 
    Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  4. Congenital bile acid synthesis defect type 2 
    Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  5. Aromatic l-amino acid decarboxylase deficiency 
    Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  6. Fatty acid hydroxylase-associated neurodegeneration 
    Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  7. Maple syrup urine disease 
    ... unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the ... complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  8. Combined malonic and methylmalonic aciduria 
    ... high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  9. Hartnup disease 
    ... inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  10. Isovaleric acidemia 
    ... break down a particular protein building block (amino acid). The condition is classified as an organic acid disorder, which is a condition that leads to ...
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia - Genetics
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