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Results 1 - 10 of 17 for Disorder of amino acid metabolism
  1. Newborn screening tests 
    ... number of disorders. Some of these may include: Amino acid metabolism disorders Biotinidase deficiency Congenital adrenal hyperplasia Congenital hypothyroidism Cystic ...
    https://medlineplus.gov/ency/article/007257.htm - Medical Encyclopedia
  2. Homocystinuria 
    Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life.
    https://medlineplus.gov/ency/article/001199.htm - Medical Encyclopedia
  3. Canavan disease 
    ... chap 29. Matalon RK, Trapasso JM. Defects in metabolism of amino acids: N-acetylaspartic acid (Canavan disease). In: Kliegman RM, St. Geme JW, Blum NJ, ...
    https://medlineplus.gov/ency/article/001586.htm - Medical Encyclopedia
  4. Aminoaciduria 
    ... type 1 Tyrosinemia type 2 Viral hepatitis Wilson disease
    https://medlineplus.gov/ency/article/003366.htm - Medical Encyclopedia
  5. Maple syrup urine disease 
    ... JL, Gallagher RC. Inborn errors of carbohydrate, ammonia, amino acid, and organic acid metabolism. In: Gleason CA, Sawyer T, eds. Avery's Diseases of the Newborn . 11th ed. Philadelphia, PA: Elsevier; ...
    https://medlineplus.gov/ency/article/000373.htm - Medical Encyclopedia
  6. Plasma amino acids 
    ... error A decrease in the total level of amino acids in the blood may be due to: Adrenal cortical hyperfunction Fever Hartnup disease Inborn error of metabolism Huntington chorea Malnutrition Nephrotic syndrome Phlebotomus fever Rheumatoid ...
    https://medlineplus.gov/ency/article/003361.htm - Medical Encyclopedia
  7. Phenylketonuria 
    ... if the child has not inherited the full disease. ... NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino ... and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, Deyrup ...
    https://medlineplus.gov/ency/article/001166.htm - Medical Encyclopedia
  8. Waardenburg syndrome 
    ... MA, Vleugels RA, eds. Dermatological Signs of Systemic Disease. 5th ed. Philadelphia, PA: Elsevier; 2017:chap 40. Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, ...
    https://medlineplus.gov/ency/article/001428.htm - Medical Encyclopedia
  9. Opisthotonos 
    ... Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ... of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, ...
    https://medlineplus.gov/ency/article/003195.htm - Medical Encyclopedia
  10. Alkaptonuria 
    ... Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the ... metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, ...
    https://medlineplus.gov/ency/article/001200.htm - Medical Encyclopedia
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