Phosphohydroxylysinuria; Phlu
Table of contents:
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.Phosphohydroxylysinuria; Phlu Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 PHYKPL.
By Fulgent Genetics Fulgent Genetics (United States).
PHYKPL
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4