Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 18 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 all proteins in the body.
    https://medlineplus.gov/ency/article/001199.htm - Medical Encyclopedia
  3. Canavan disease 
    ... JW, Blum NJ, et al, eds. 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. Phenylketonuria 
    ... 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/001166.htm - Medical Encyclopedia
  5. Aminoaciduria 
    ... type 1 Tyrosinemia type 2 Viral hepatitis Wilson disease
    https://medlineplus.gov/ency/article/003366.htm - Medical Encyclopedia
  6. 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
  7. 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
  8. Alkaptonuria 
    ... 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/001200.htm - Medical Encyclopedia
  9. 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
  10. Opisthotonos 
    ... Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ed. Philadelphia, PA: Elsevier; 2020:chap 244. Kliegman RM, St. Geme JW, Blum NJ, et al. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, ...
    https://medlineplus.gov/ency/article/003195.htm - Medical Encyclopedia
previous · 1 · 2 · next