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Phosphohydroxylysinuria(PHLU)

MedGen UID:
767258
•Concept ID:
C3554344
•
Finding
Synonym: PHLU
 
Gene (location): PHYKPL (5q35.3)
 
HPO: HP:0031870
Monarch Initiative: MONDO:0014008
OMIM®: 615011

Definition

Phosphohydroxylysinuria (PHLU) is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013). [from OMIM]

Clinical features

From HPO
Phosphohydroxylysinuria
MedGen UID:
767258
•Concept ID:
C3554344
•
Finding
Phosphohydroxylysinuria (PHLU) is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).
See: Feature record | Search on this feature
Elevated urinary phosphohydroxylysine level
MedGen UID:
1054455
•Concept ID:
CN377955
•
Finding
The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal.
See: Feature record | Search on this feature

Conditions with this feature

Phosphohydroxylysinuria
MedGen UID:
767258
•Concept ID:
C3554344
•
Finding
Phosphohydroxylysinuria (PHLU) is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).
See: Condition Record
Phosphohydroxylysinuria

Recent clinical studies

Etiology

Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.
Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E
J Biol Chem 2012 Mar 2;287(10):7246-55. Epub 2012 Jan 12 doi: 10.1074/jbc.M111.323485. PMID: 22241472Free PMC Article

Clinical prediction guides

O-phosphohydroxylysinuria: a new inborn error of metabolism?
Dorland L, Duran M, de Bree PK, Smith GR, Horvath A, Tibosch AS, Wadman SK
Clin Chim Acta 1990 May;188(3):221-6. doi: 10.1016/0009-8981(90)90203-5. PMID: 2387074

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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