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Results 1 - 9 of 9 for Abnormal urine amino acid level
  1. Isovaleric acidemia 
    ... properly break down a particular protein building block (amino acid). The ... (organic acidemia), urine (organic aciduria), and tissues can be toxic and ...
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia - Genetics
  2. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... People with SBCAD deficiency cannot process a particular amino acid called ... urine (2-methylbutyrylglycinuria).Most people with SBCAD deficiency have ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  3. Glutaric acidemia type I 
    ... buildup of particular acids known as organic acids. Abnormal levels of ... the amino acids lysine, hydroxylysine, and tryptophan, which are building ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  4. Propionic acidemia 
    ... buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  5. Maple syrup urine disease 
    ... leucine, isoleucine, and valine. As a result, these amino acids and their ... maple syrup urine disease.Researchers are studying other genes related to ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  6. GRACILE syndrome 
    ... the liver, which likely begins before birth. Iron levels may begin to improve ... (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  7. Osteoglophonic dysplasia 
    ... in abnormally high amounts of phosphate in the urine and low levels of phosphate in the blood. This further impairs ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  8. Amish lethal microcephaly 
    ... alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  9. Dihydrolipoamide dehydrogenase deficiency 
    ... in the breakdown of three protein building blocks (amino acids) commonly found in protein-rich foods: leucine, isoleucine, and valine. Breakdown of these amino acids produces molecules that can be used for energy. ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics