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Results 1 - 10 of 16 for HISTIDINE OR THREONINE OR GLYCINE OR PROLINE OR glutamine ACID OR LYSINE OR VALINE OR ASPARTIC ACID OR PHENYLALANINE OR LEUCINE OR ISOLEUCINE OR TRYPTOPHAN OR TYROSINE OR METHIONINE OR ALANINE OR SERINE OR ARGININE
  1. Histidinemia 
    ... characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  2. Hyperprolinemia 
    ... excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when ... the previous reaction, converting it to the amino acid glutamate. The conversion of proline to glutamate (and the conversion of glutamate to ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  3. Arginine:glycine amidinotransferase deficiency 
    ... atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy ... amidinotransferase enzyme to participate in creatine synthesis, resulting ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  4. Prolidase deficiency 
    ... acids). Specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase helps make them available for use in ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  5. Guanidinoacetate methyltransferase deficiency 
    ... compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  6. Cutis laxa 
    ... the formation of the protein building block (amino acid) proline, which is a key component of elastic fiber ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  7. Glutamate formiminotransferase deficiency 
    ... steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also ...
    https://medlineplus.gov/...glutamate-formiminotransferase-deficiency - Genetics
  8. Amish lethal microcephaly 
    ... amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  9. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... G, Cole T, Chapman S, Pope FM. A glycine to aspartic acid substitution of COL2A1 in a family with the ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  10. Multiple mitochondrial dysfunctions syndrome 
    ... that breaks down a protein building block (amino acid) called glycine when levels become too high.Mutations in the ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
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