Phosphohydroxylysinuria; Phlu

Description

Phosphohydroxylysinuria 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).

Clinical Features

Phenotypes and symptoms related to Phosphohydroxylysinuria; Phlu

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis
  • Progressive neurologic deterioration

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Phosphohydroxylysinuria; Phlu Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PHYKPL.

By Fulgent Genetics Fulgent Genetics (United States).

PHYKPL
Specificity
100 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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