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Results 1 - 9 of 9 for Leucine
  1. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ... for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  2. 3-methylcrotonyl-CoA carboxylase deficiency 
    ... contain a particular building block (amino acid) called leucine.The signs and symptoms of MCC deficiency can ... for the fourth step in the breakdown of leucine, an amino acid that is part of many ...
    https://medlineplus.gov/...methylcrotonyl-coa-carboxylase-deficiency - Genetics
  3. Isovaleric acidemia 
    ... helps break down a particular amino acid called leucine.Health problems related to isovaleric acidemia range from ... Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a ...
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia - Genetics
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid ... activity. Without any functional 3-methylglutaconyl-CoA hydratase, leucine is not properly broken down, which leads to ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. X-linked congenital stationary night blindness 
    ... RS, Weleber RG. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital ... caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000 Nov;26( ...
    https://medlineplus.gov/...ked-congenital-stationary-night-blindness - Genetics
  6. Maple syrup urine disease 
    ... is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many ... the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  7. Maternally inherited diabetes and deafness 
    ... assembly, this molecule attaches to the amino acid leucine (Leu) and inserts it into the appropriate locations ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
  8. Epidermolytic hyperkeratosis 
    ... SJ, DiGiovanna JJ, Compton JG, Steinert PM. A leucine----proline mutation in the H1 subdomain of keratin ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  9. Dihydrolipoamide dehydrogenase deficiency 
    ... amino acids) commonly found in protein-rich foods: leucine, isoleucine, and valine. Breakdown of these amino acids ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics