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Increased urinary non-proteinogenic amino acid level

MedGen UID:: 1750352
•Concept ID:: C5421609
•: Finding

Synonym:	Elevated urinary non-proteinogenic amino acid level

HPO:	HP:0033098

Definition

An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIncreased urinary non-proteinogenic amino acid level

Abnormality of the genitourinary system
- Abnormality of the urinary system
  - Abnormality of the urinary system physiology
    - Abnormality of urine homeostasis
      - Abnormal urine metabolite level
        Aminoaciduria
        Increased urinary non-proteinogenic amino acid level
        Alpha-aminoadipic aciduria
        Beta-alaninuria
        Beta-aminoisobutyric acid, urinary excretion of
        Citrullinemia
        Citrullinemia type I
        Acute neonatal citrullinemia type I
        Adult-onset citrullinemia type I
        Citrullinemia type II
        Citrullinemia, type II, adult-onset
        Neonatal intrahepatic cholestasis due to citrin deficiency
        Cystathioninuria
        Elevated urinary aminoisobutyric acid
        Elevated urinary beta-alanine level
        Elevated urinary gamma-glutamylphenylalanine level
        Elevated urinary N,N-dimethylglycine level
        Elevated urinary N-carbamoyl-beta-alanine level
        Elevated urinary S-sulfocysteine level
        Elevated urinary saccharopine level
        Elevated urine N-acetylaspartic acid level
        gamma-Glutamyltransferase deficiency
        Homoargininuria
        Homocitrullinuria
        Hydroxyprolinuria
        Increased level of gamma-aminobutyric acid in urine
        Ornithinuria
        Seizures-intellectual disability due to hydroxylysinuria syndrome

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