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Results 1 - 10 of 906 for l -phenylalanine
  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. 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
  7. 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
  8. 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
  9. 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
  10. Ulcerative colitis 
    ... M, Latiano A, Lagace C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, ... RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, ...
    https://medlineplus.gov/genetics/condition/ulcerative-colitis - Genetics
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