Hydroxykynureninuria
Description
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.
Clinical Features
Top most frequent phenotypes and symptoms related to Hydroxykynureninuria
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Spasticity
- Vomiting
- Hypertonia
- Headache
- Encephalopathy
- Acidosis
And another 18 symptoms. If you need more information about this disease we can help you.
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.
Alternative names
Hydroxykynureninuria Is also known as kynureninase deficiency, partial, kynureninase deficiency, xanthurenic aciduria.
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.Hydroxykynureninuria Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics (United States).
RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)
View the complete list with 476 more genes
Specificity
1 %
Genes
100 % |
KYNU.
By Fulgent Genetics Fulgent Genetics (United States).
KYNU
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 32B; IMD32B GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX BARDET-BIEDL SYNDROME 21; BBS21 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD