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Results 1 - 10 of 23 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. KL gene 
    ... a condition characterized by an increase in the levels of phosphate in the blood ... block (amino acid) histidine with the amino acid arginine at position ...
    https://medlineplus.gov/genetics/gene/kl - Genetics
  7. GSS gene 
    ... deficiency. Characteristic features of this condition include the abnormal ... amino acids in glutathione synthetase. Other mutations disrupt how genetic ...
    https://medlineplus.gov/genetics/gene/gss - Genetics
  8. 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
  9. CASR gene 
    ... are involved in several other conditions associated with abnormal calcium ... urine (hypocalciuria), but affected individuals typically have no symptoms ...
    https://medlineplus.gov/genetics/gene/casr - Genetics
  10. CLCNKB gene 
    ... gene. Other mutations change single protein building blocks (amino acids) ... (salt wasting). The abnormal salt loss disrupts the normal balance of ions ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
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