Hydroxykynureninuria
Synonyms: Kynureninase deficiency · Xanthurenic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydroxykynureninuria | Kynureninase deficiency · Xanthurenic aciduria |
| fr | Hydroxykynuréninurie | Acidurie xanthurénique · Déficit en kynuréninase |
| de | Hydroxykynureninurie | Kynureninase-Mangel · Xanthurenazidurie |
| es | Hidroxiquinureninuria | Aciduria xanturénica · Deficiencia de quinureninasa |
| it | Idrossichinureninuria | Aciduria xanturenica · Deficit di chinureninasi |
| nl | Hydroxykynureninurie | Kynureninasedeficiëntie · Xanthureenacidurie |
| pt | Encefalopatia por hidroxiquinureninúria | Acidúria xanturénica · Deficiência de Quinureninase |
| pl | Encefalopatia spowodowana hydroksykinureninurią | Acyduria ksanturenowa · Niedobór kinureninazy |
| cs | Encefalopatie způsobená hydroxykynureninurií | Deficit kynureninázy · Xanthurenická acidurie |
| uk | Гідроксикінуренінурія | Дефіцит кінуренінази · Ксантуренова ацидурія |
| zh | 羟基犬尿酸尿症 | 犬尿氨酸酶缺乏 |
| tr | Hidroksikinüreninüri | Ksantürenik asidüri · Kinüreninaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236800 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.3 | NTBT | index | validated |
| MeSH | C536081 | E | validated | |
| UMLS | C0268474 | E | validated | |
| GARD | 10039 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:289829Disorder of tryptophan metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KYNU | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6469 | ENSG00000115919 | 605197 | 2q22.2 | kynureninase | 17334708[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2018-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0004365 | Abnormality of tryptophan metabolism | |
| HP:0001298 | Encephalopathy | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0005957 | Breathing dysregulation | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0000958 | Dry skin | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0001276 | Hypertonia | |
| HP:0002615 | Hypotension | |
| HP:0001249 | Intellectual disability | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0010280 | Stomatitis | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0001259 | Coma | |
| Excluded (0%) | ||
| HP:0002448 | Progressive encephalopathy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17334708[PMID]_5586569[PMID]_14169454[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79155
- This record as JSON: /data/d/79155.json