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  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both parents must have and pass on the defective gene. [17]

  3. Pegvaliase - Wikipedia

    en.wikipedia.org/wiki/Pegvaliase

    Pegvaliase, sold under the brand name Palynziq, is a medication used for the treatment of the genetic disease phenylketonuria (PKU). [5] [9] [10] It is a phenylalanine (Phe)‑metabolizing enzyme. [5] Chemically, it is a pegylated derivative of the enzyme phenylalanine ammonia-lyase that metabolizes phenylalanine to reduce its blood levels. [5]

  4. Hyperphenylalaninemia - Wikipedia

    en.wikipedia.org/wiki/Hyperphenylalaninemia

    Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...

  5. Urinary anti-infective agent - Wikipedia

    en.wikipedia.org/wiki/Urinary_anti-infective_agent

    Urinary tract infection in pediatric patients is a significant clinical issue, affecting approximately 7% of fevered infants and children. [43] If left untreated, the infection can ascend from the bladder to the kidneys, resulting in acute pyelonephritis, which leads to hypertension , kidney scarring , and end-stage kidney disease .

  6. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders; Dietary supplementation or replacement E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic. Medications

  7. European Society for Phenylketonuria and Allied Disorders ...

    en.wikipedia.org/wiki/European_Society_for...

    The E.S.PKU benchmark report [5] assesses the differences in care across Europe and provides a starting point for the E.S.PKU to improve any gaps in care that have been identified. [6] In consequence, the delegates decided that action is required to improve this situation. The report was presented [7] at the European Parliament. To underline ...

  8. Urinalysis - Wikipedia

    en.wikipedia.org/wiki/Urinalysis

    Urinalysis is commonly used to help diagnose urinary tract infections, but the significance of the results depends on the broader clinical situation. [13] In the setting of UTI symptoms, positive dipstick results for nitrite and leukocyte esterase are strongly suggestive of a UTI, [ 138 ] [ 139 ] but negative results do not rule it out if there ...

  9. Urinary tract infection - Wikipedia

    en.wikipedia.org/wiki/Urinary_tract_infection

    A urinary tract infection (UTI) is an infection that affects a part of the urinary tract. [1] Lower urinary tract infections may involve the bladder ( cystitis ) or urethra ( urethritis ) while upper urinary tract infections affect the kidney ( pyelonephritis ). [ 10 ]

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