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).
Genes related to Phosphohydroxylysinuria; Phlu
Clinical FeaturesPhenotypes and symptoms related to Phosphohydroxylysinuria; Phlu
- Growth delay
- Abnormality of the nervous system
- 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 researchersCurrently, 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.
Phosphohydroxylysinuria; Phlu Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1