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Results 1 - 10 of 903 for l -alanine
  1. Aromatic l-amino acid decarboxylase deficiency 
    Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way nerve cells (neurons) transmit information to other cells.Signs ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. Essential pentosuria 
    ... characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a ... instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in ...
    https://medlineplus.gov/genetics/condition/essential-pentosuria - Genetics
  3. LMNA-related congenital muscular dystrophy 
    LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  4. Arginine:glycine amidinotransferase deficiency 
    ... deficiency syndrome due to AGAT deficiency GATM deficiency L-arginine:glycine amidinotransferase deficiency L-arginine:glycine aminidotransferase deficiency Genetic Testing Registry: Arginine: ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  5. 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... CoA dehydrogenase HAD deficiency HADH deficiency HADHSC deficiency L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency ... MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW. Reye-like ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  6. Sepiapterin reductase deficiency 
    ... PubMed Abeling NG, Duran M, Bakker HD, Stroomer L, Thony B, Blau N, Booij J, Poll-The ... Epub 2006 May 2. Citation on PubMed Arrabal L, Teresa L, Sanchez-Alcudia R, Castro M, Medrano ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  7. Fucosidosis 
    ... provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the ... to certain fats (glycolipids) and proteins (glycoproteins). Alpha-L-fucosidase is responsible for cutting off (cleaving) a ...
    https://medlineplus.gov/genetics/condition/fucosidosis - Genetics
  8. Lysinuric protein intolerance 
    ... provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  9. 2-hydroxyglutaric aciduria 
    ... called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).The main features of D-2- ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  10. Primary familial brain calcification 
    ... Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin ... H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, ...
    https://medlineplus.gov/.../primary-familial-brain-calcification - Genetics
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